A69S (p.Ala69Ser) variant of SRD5A2 (P31213)
A69S (p.Ala69Ser) 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 0.51 / 1. The record also includes population frequency data.
A69S (p.Ala69Ser) variant details
- p.Ala69Ser
- rs1553329443
- ClinGen CA346598903
- ClinVar RCV000583779
- Ensembl rs1553329443
- Pathogenic
- 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- CADD 18.20
- PolyPhen-2 0.61
- SIFT 0.51
- ClinVar: Pathogenic (3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available