rs774773395

Description

This variant (c.434G>C) is considered a variant of uncertain significance, as it is a novel variant that has not been reported in literature and absent in large population databases. Computational evidence is conflicting. It occurs in a moderately conserved amino acid position. Mammals have either an arginine or histidine at this position. This amino acid substiution is from an arginine to a proline, which is a non-conservative change. It is in the Ribonuclease H2 subunit C domain according to InterPro. The nucleotide position is not conserved.