A228V (p.Ala228Val) variant of SRD5A2 (P31213)
A228V (p.Ala228Val) in SRD5A2 (P31213) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Differences in sex development; not provided; 3-Oxo-5 alpha-steroid delta 4-dehy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes structural context.
A228V (p.Ala228Val) variant details
- p.Ala228Val
- rs1553323488
- ClinGen CA346597874
- NCI-TCGA Cosmic COSV9925
- ClinVar RCV000540681
- Pathogenic
- Differences in sex development; not provided; 3-Oxo-5 alpha-steroid delta 4-dehy
- Missense
- Variant Prioritization Score for Impact Estimate 0.759
- AlphaMissense 0.76
- ClinVar: Pathogenic (3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency)
- EBI: Pathogenic (in PPSH)
- UniProt: Pathogenic (in PPSH)
- Structural context available