G196S (p.Gly196Ser) variant of SRD5A2 (P31213)
G196S (p.Gly196Ser) in SRD5A2 (P31213) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
G196S (p.Gly196Ser) variant details
- p.Gly196Ser
- rs121434250
- ClinGen CA340079
- ClinVar RCV000003509
- ClinVar RCV001269804
- Pathogenic/Likely pathogenic
- not provided; 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- AlphaMissense 0.97
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; 3-Oxo-5 alpha-steroid delta 4-dehydrogenase defici)
- EBI: Pathogenic (in PPSH)
- UniProt: Pathogenic (in PPSH)
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Cited in: Molecular genetics of steroid 5 alpha-reductase 2 deficiency. (PMID 1522235)
- Cited in: New mutations, hotspots, and founder effects in Brazilian patients with steroid 5alpha-reductase deficiency type 2. (PMID 15770495)