I21V (p.Ile21Val) variant of KRT4 (Keratin, type II cytoskeletal 4)
I21V (p.Ile21Val) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
I21V (p.Ile21Val) variant details
- p.Ile21Val
- ExAC rs764171478
- gnomAD rs764171478
- Missense
- Variant Prioritization Score for Impact Estimate 0.0947
- REVEL 0.11
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available