R3H (p.Arg3His) variant of KRT5 (Keratin, type II cytoskeletal 5)
R3H (p.Arg3His) in KRT5 (Keratin, type II cytoskeletal 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
R3H (p.Arg3His) variant details
- p.Arg3His
- ExAC rs770091254
- TOPMed rs770091254
- gnomAD rs770091254
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.35
- CADD 26.90
- PolyPhen-2 0.89
- SIFT 0.05
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available