S62C (p.Ser62Cys) variant of KRT17 (Keratin, type I cytoskeletal 17)
S62C (p.Ser62Cys) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. 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.
S62C (p.Ser62Cys) variant details
- p.Ser62Cys
- rs11553455
- ClinGen CA8563822
- ClinVar RCV003878540
- ExAC rs11553455
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.33
- CADD 22.60
- PolyPhen-2 0.71
- SIFT 0.13
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available