S72G (p.Ser72Gly) variant of KRT17 (Keratin, type I cytoskeletal 17)
S72G (p.Ser72Gly) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
S72G (p.Ser72Gly) variant details
- p.Ser72Gly
- gnomAD rs1196700871
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.12
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.69
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available