A39V (p.Ala39Val) variant of KRT18 (Keratin, type I cytoskeletal 18)
A39V (p.Ala39Val) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
A39V (p.Ala39Val) variant details
- p.Ala39Val
- ExAC rs771828609
- gnomAD rs771828609
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- REVEL 0.55
- CADD 23.30
- PolyPhen-2 0.04
- SIFT 0.09
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available