G196R (p.Gly196Arg) variant of SRD5A2 (P31213)
G196R (p.Gly196Arg) in SRD5A2 (P31213) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes structural context.
G196R (p.Gly196Arg) variant details
- p.Gly196Arg
- rs121434250
- ClinGen CA346598068
- ClinVar RCV000660891
- 1000Genomes rs121434250
- Pathogenic
- 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.966
- AlphaMissense 0.97
- ClinVar: Pathogenic (3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency)
- EBI: Pathogenic (in PPSH)
- UniProt: Pathogenic (in PPSH)
- Structural context available