R6C (p.Arg6Cys) variant of KRT17 (Keratin, type I cytoskeletal 17)
R6C (p.Arg6Cys) 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 0.60 / 1. The record also includes population frequency data and structural context.
R6C (p.Arg6Cys) variant details
- p.Arg6Cys
- rs79896664
- ClinGen CA8563885
- ClinVar RCV000961490
- 1000Genomes rs79896664
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- REVEL 0.55
- CADD 24.50
- PolyPhen-2 0.90
- SIFT 0.19
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available