A103V (p.Ala103Val) variant of KRT8 (Keratin, type II cytoskeletal 8)
A103V (p.Ala103Val) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
A103V (p.Ala103Val) variant details
- p.Ala103Val
- gnomAD rs1356744191
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- CADD 26.80
- PolyPhen-2 0.44
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available