I74V (p.Ile74Val) variant of KRT5 (Keratin, type II cytoskeletal 5)
I74V (p.Ile74Val) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
I74V (p.Ile74Val) variant details
- p.Ile74Val
- ExAC rs779166505
- gnomAD rs779166505
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.09
- CADD 17.30
- PolyPhen-2 0.01
- SIFT 0.15
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available