R92S (p.Arg92Ser) variant of KRT2 (P35908)
R92S (p.Arg92Ser) in KRT2 (P35908) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
R92S (p.Arg92Ser) variant details
- p.Arg92Ser
- ExAC rs763806196
- gnomAD rs763806196
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.18
- CADD 17.00
- PolyPhen-2 0.00
- SIFT 0.31
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available