A65P (p.Ala65Pro) variant of SRD5A2 (P31213)
A65P (p.Ala65Pro) 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 0.36 / 1. The record also includes population frequency data.
A65P (p.Ala65Pro) variant details
- p.Ala65Pro
- rs1186430097
- ClinGen CA346598926
- ClinVar RCV001269740
- ClinVar RCV003500674
- Pathogenic/Likely pathogenic
- not provided; 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- CADD 22.70
- PolyPhen-2 0.94
- SIFT 0.13
- ClinVar: Pathogenic/Likely pathogenic (not provided; 3-Oxo-5 alpha-steroid delta 4-dehydrogenase defici)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available