G104E (p.Gly104Glu) variant of SRD5A2 (P31213)
G104E (p.Gly104Glu) 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 0.76 / 1. The record also includes population frequency data and structural context.
G104E (p.Gly104Glu) variant details
- p.Gly104Glu
- rs777711528
- ClinGen CA1599966
- ClinVar RCV003459918
- ExAC rs777711528
- Pathogenic
- 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- CADD 23.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available