E57Q (p.Glu57Gln) variant of SRD5A2 (P31213)
E57Q (p.Glu57Gln) 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 0.69 / 1. The record also includes population frequency data and structural context.
E57Q (p.Glu57Gln) variant details
- p.Glu57Gln
- rs750444774
- ClinGen CA1600017
- ClinVar RCV000582093
- ExAC rs750444774
- Pathogenic
- 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- AlphaMissense 0.87
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available