C60S (p.Cys60Ser) variant of KRT17 (Keratin, type I cytoskeletal 17)
C60S (p.Cys60Ser) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
C60S (p.Cys60Ser) variant details
- p.Cys60Ser
- rs200841795
- ClinGen CA8563824
- ClinVar RCV001470161
- ESP rs200841795
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.22
- CADD 18.20
- PolyPhen-2 0.00
- SIFT 0.56
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available