R42W (p.Arg42Trp) variant of KRT6A (Keratin, type II cytoskeletal 6A)
R42W (p.Arg42Trp) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
R42W (p.Arg42Trp) variant details
- p.Arg42Trp
- ExAC rs752229219
- TOPMed rs752229219
- gnomAD rs752229219
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.41
- CADD 21.80
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available