G115D (p.Gly115Asp) variant of SRD5A2 (P31213)
G115D (p.Gly115Asp) in SRD5A2 (P31213) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
G115D (p.Gly115Asp) variant details
- p.Gly115Asp
- rs121434246
- ClinGen CA340070
- ClinVar RCV000003504
- UniProt VAR 013106
- Pathogenic/Likely pathogenic
- 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- CADD 16.90
- PolyPhen-2 0.85
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency)
- EBI: Pathogenic (in PPSH)
- UniProt: Pathogenic (in PPSH)
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Cited in: Identification of missense mutations in the SRD5A2 gene from patients with steroid 5alpha-reductase 2 deficiency. (PMID 10718838)
- Cited in: Clinical, biochemical and morphologic diagnostic markers in an infant male pseudohermaphrodite patient with compound… (PMID 15528927)