R109C (p.Arg109Cys) variant of CYP17A1 (P05093)
R109C (p.Arg109Cys) in CYP17A1 (P05093) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
R109C (p.Arg109Cys) variant details
- p.Arg109Cys
- cosmic curated COSV64005
- ExAC rs750236382
- TOPMed rs750236382
- gnomAD rs750236382
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.26
- CADD 21.80
- PolyPhen-2 0.81
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available