S18Y (p.Ser18Tyr) variant of KRT17 (Keratin, type I cytoskeletal 17)
S18Y (p.Ser18Tyr) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
S18Y (p.Ser18Tyr) variant details
- p.Ser18Tyr
- gnomAD rs1409637177
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.38
- CADD 20.30
- PolyPhen-2 0.17
- SIFT 0.06
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available