R56W (p.Arg56Trp) variant of KRT4 (Keratin, type II cytoskeletal 4)
R56W (p.Arg56Trp) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
R56W (p.Arg56Trp) variant details
- p.Arg56Trp
- TOPMed rs937760611
- gnomAD rs937760611
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.05
- CADD 19.10
- PolyPhen-2 0.39
- SIFT 0.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available