G203S (p.Gly203Ser) variant of SRD5A2 (P31213)
G203S (p.Gly203Ser) in SRD5A2 (P31213) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/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 0.79 / 1. The record also includes population frequency data and structural context.
G203S (p.Gly203Ser) variant details
- p.Gly203Ser
- rs9332961
- ClinGen CA1599879
- ClinVar RCV000535535
- UniProt VAR 059791
- Pathogenic/Likely pathogenic
- 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- CADD 27.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency)
- EBI: Pathogenic (in dbSNP:rs9332961)
- UniProt: Pathogenic (in dbSNP:rs9332961)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available