A85V (p.Ala85Val) variant of KRT2 (P35908)
A85V (p.Ala85Val) in KRT2 (P35908) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
A85V (p.Ala85Val) variant details
- p.Ala85Val
- ExAC rs777951065
- TOPMed rs777951065
- gnomAD rs777951065
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.14
- CADD 0.14
- PolyPhen-2 0.00
- SIFT 0.51
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available