R109H (p.Arg109His) variant of CYP17A1 (P05093)
R109H (p.Arg109His) 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 0.23 / 1. The record also includes population frequency data and structural context.
R109H (p.Arg109His) variant details
- p.Arg109His
- NCI-TCGA Cosmic COSV6400
- cosmic curated COSV64004
- TOPMed rs1844148335
- gnomAD rs1844148335
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.17
- CADD 21.30
- PolyPhen-2 0.57
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available