A12E (p.Ala12Glu) variant of SRD5A2 (P31213)
A12E (p.Ala12Glu) in SRD5A2 (P31213) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.46 / 1. The record also includes population frequency data and structural context.
A12E (p.Ala12Glu) variant details
- p.Ala12Glu
- rs2465708766
- ClinGen CA346599240
- ClinVar RCV003445401
- Likely pathogenic
- 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- CADD 23.80
- PolyPhen-2 0.98
- SIFT 0.25
- ClinVar: Likely pathogenic (3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available