A83V (p.Ala83Val) variant of KRT9 (Keratin, type I cytoskeletal 9)
A83V (p.Ala83Val) in KRT9 (Keratin, type I cytoskeletal 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
A83V (p.Ala83Val) variant details
- p.Ala83Val
- ExAC rs776015053
- gnomAD rs776015053
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.27
- CADD 1.99
- PolyPhen-2 0.00
- SIFT 0.13
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available