C51R (p.Cys51Arg) variant of KRT6B (Keratin, type II cytoskeletal 6B)
C51R (p.Cys51Arg) in KRT6B (Keratin, type II cytoskeletal 6B) 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.
C51R (p.Cys51Arg) variant details
- p.Cys51Arg
- gnomAD rs1416255263
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.14
- CADD 14.10
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available