S62R (p.Ser62Arg) variant of KRT17 (Keratin, type I cytoskeletal 17)
S62R (p.Ser62Arg) 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.
S62R (p.Ser62Arg) variant details
- p.Ser62Arg
- ExAC rs763856669
- gnomAD rs763856669
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.46
- CADD 22.10
- PolyPhen-2 0.33
- SIFT 0.28
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available