R30W (p.Arg30Trp) variant of KRT17 (Keratin, type I cytoskeletal 17)
R30W (p.Arg30Trp) in KRT17 (Keratin, type I cytoskeletal 17) 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.
R30W (p.Arg30Trp) variant details
- p.Arg30Trp
- ExAC rs747613789
- TOPMed rs747613789
- gnomAD rs747613789
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.47
- CADD 17.50
- PolyPhen-2 0.35
- SIFT 0.25
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available