A27V (p.Ala27Val) variant of KRT2 (P35908)
A27V (p.Ala27Val) in KRT2 (P35908) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
A27V (p.Ala27Val) variant details
- p.Ala27Val
- 1000Genomes rs574869727
- ExAC rs574869727
- gnomAD rs574869727
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.34
- CADD 23.30
- PolyPhen-2 0.11
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available