R46C (p.Arg46Cys) variant of SRD5A2 (P31213)
R46C (p.Arg46Cys) in SRD5A2 (P31213) 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 0.08 / 1. The record also includes population frequency data and structural context.
R46C (p.Arg46Cys) variant details
- p.Arg46Cys
- rs914715976
- NCI-TCGA Cosmic COSV5187
- TOPMed rs914715976
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0774
- CADD 2.86
- PolyPhen-2 0.01
- SIFT 0.25
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available