I109V (p.Ile109Val) variant of KRT4 (Keratin, type II cytoskeletal 4)
I109V (p.Ile109Val) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
I109V (p.Ile109Val) variant details
- p.Ile109Val
- gnomAD rs1939953668
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.53
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available