G50S (p.Gly50Ser) variant of KRT2 (P35908)
G50S (p.Gly50Ser) in KRT2 (P35908) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
G50S (p.Gly50Ser) variant details
- p.Gly50Ser
- ExAC rs766363551
- gnomAD rs766363551
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.28
- CADD 5.77
- PolyPhen-2 0.06
- SIFT 0.21
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available