R67C (p.Arg67Cys) variant of CYP17A1 (P05093)
R67C (p.Arg67Cys) in CYP17A1 (P05093) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
R67C (p.Arg67Cys) variant details
- p.Arg67Cys
- rs750853745
- NCI-TCGA Cosmic COSV6400
- cosmic curated COSV64004
- ExAC rs750853745
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.35
- CADD 21.20
- PolyPhen-2 0.98
- SIFT 0.15
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available