A3V (p.Ala3Val) variant of KRT4 (Keratin, type II cytoskeletal 4)
A3V (p.Ala3Val) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
A3V (p.Ala3Val) variant details
- p.Ala3Val
- TOPMed rs867741067
- gnomAD rs867741067
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.15
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available