A92V (p.Ala92Val) variant of KRT16 (Keratin, type I cytoskeletal 16)
A92V (p.Ala92Val) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
A92V (p.Ala92Val) variant details
- p.Ala92Val
- gnomAD rs1343765163
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- REVEL 0.22
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.28
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available