S56R (p.Ser56Arg) variant of KRT17 (Keratin, type I cytoskeletal 17)
S56R (p.Ser56Arg) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
S56R (p.Ser56Arg) variant details
- p.Ser56Arg
- ExAC rs754997516
- TOPMed rs754997516
- gnomAD rs754997516
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.32
- CADD 16.90
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available