R41H (p.Arg41His) variant of KRT16 (Keratin, type I cytoskeletal 16)
R41H (p.Arg41His) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
R41H (p.Arg41His) variant details
- p.Arg41His
- ExAC rs1133106
- TOPMed rs1133106
- gnomAD rs1133106
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.32
- CADD 22.70
- PolyPhen-2 0.52
- SIFT 0.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available