A77V (p.Ala77Val) variant of KRT2 (P35908)
A77V (p.Ala77Val) in KRT2 (P35908) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
A77V (p.Ala77Val) variant details
- p.Ala77Val
- gnomAD rs1188059408
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.45
- CADD 19.20
- PolyPhen-2 0.20
- SIFT 0.09
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available