Variants
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rs138454923

  • Uncertain significance

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Description

This sequence change replaces glutamic acid with lysine at codon 1174 of the PNPLA6 protein (p.Glu1174Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs138454923, ExAC 0.03%). This variant has not been reported in the literature in individuals affected with PNPLA6-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

Reference Allele

G


Alternative Allele

A

C

Chromosome

19


Location

7559086


Variant Type

SNP

Genes

ClinVar

Name

NM_001166114.2(PNPLA6):c.3634G>A (p.Glu1212Lys)


Allele

A


Clinical Significance

Uncertain significance

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