C5R (p.Cys5Arg) variant of SRD5A2 (P31213)
C5R (p.Cys5Arg) in SRD5A2 (P31213) is a missense change. The available record places it in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
C5R (p.Cys5Arg) variant details
- p.Cys5Arg
- rs61748120
- ClinGen CA224879
- ClinVar RCV000083637
- UniProt VAR 077546
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- AlphaMissense 0.82
- ClinVar: not provided (not provided)
- EBI: Benign
- UniProt: Benign
- Structural context available
- Cited in: Biochemical and pharmacogenetic dissection of human steroid 5 alpha-reductase type II. (PMID 10898110)