A228G (p.Ala228Gly) variant of SRD5A2 (P31213)
A228G (p.Ala228Gly) in SRD5A2 (P31213) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely 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.
A228G (p.Ala228Gly) variant details
- p.Ala228Gly
- rs1553323488
- ClinGen CA346597875
- ClinVar RCV003317733
- Likely 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: Likely pathogenic (3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency)
- EBI: Likely pathogenic (in PPSH)
- UniProt: Likely pathogenic (in PPSH)
- Structural context available