rs782633612
- Uncertain significance
Your Genotype
Sign InDescription
This sequence change replaces alanine with serine at codon 398 of the FLNA protein (p.Ala398Ser). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with FLNA-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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
C
Alternative Allele
A
T
Chromosome
X
Location
154366344
Variant Type
SNP
Genes
ClinVar
Name
NM_001110556.2(FLNA):c.1192G>T (p.Ala398Ser)
Allele
A
Clinical Significance
Uncertain significance