G32S (p.Gly32Ser) variant of SRD5A2 (P31213)
G32S (p.Gly32Ser) in SRD5A2 (P31213) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign 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 0.08 / 1. The record also includes population frequency data and structural context.
G32S (p.Gly32Ser) variant details
- p.Gly32Ser
- rs781783385
- ClinGen CA346599122
- ClinVar RCV003501544
- ExAC rs781783385
- Benign
- 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.0786
- CADD 0.03
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Benign (3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available