C51R (p.Cys51Arg) variant of KRT6A (Keratin, type II cytoskeletal 6A)
C51R (p.Cys51Arg) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
C51R (p.Cys51Arg) variant details
- p.Cys51Arg
- TOPMed rs1938301828
- gnomAD rs1938301828
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.41
- CADD 14.00
- PolyPhen-2 0.10
- SIFT 0.17
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available