A122V (p.Ala122Val) variant of KRT3 (Keratin, type II cytoskeletal 3)
A122V (p.Ala122Val) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
A122V (p.Ala122Val) variant details
- p.Ala122Val
- TOPMed rs1481363664
- gnomAD rs1481363664
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.30
- CADD 16.50
- PolyPhen-2 0.38
- SIFT 0.28
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available