C60F (p.Cys60Phe) variant of KRT17 (Keratin, type I cytoskeletal 17)
C60F (p.Cys60Phe) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. 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.
C60F (p.Cys60Phe) variant details
- p.Cys60Phe
- ESP rs200841795
- ExAC rs200841795
- TOPMed rs200841795
- gnomAD rs200841795
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.21
- CADD 20.60
- PolyPhen-2 0.01
- SIFT 0.26
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available