S18F (p.Ser18Phe) variant of KRT17 (Keratin, type I cytoskeletal 17)
S18F (p.Ser18Phe) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
S18F (p.Ser18Phe) variant details
- p.Ser18Phe
- gnomAD rs1409637177
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.25
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available