V8A (p.Val8Ala) variant of KRT4 (Keratin, type II cytoskeletal 4)
V8A (p.Val8Ala) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
V8A (p.Val8Ala) variant details
- p.Val8Ala
- ExAC rs760017217
- TOPMed rs760017217
- gnomAD rs760017217
- Missense
- Variant Prioritization Score for Impact Estimate 0.139
- REVEL 0.06
- CADD 16.80
- PolyPhen-2 0.00
- SIFT 0.28
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available