A65V (p.Ala65Val) variant of KRT8 (Keratin, type II cytoskeletal 8)
A65V (p.Ala65Val) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data.
A65V (p.Ala65Val) variant details
- p.Ala65Val
- ExAC rs753945275
- gnomAD rs753945275
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- CADD 24.40
- PolyPhen-2 0.61
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)