G32V (p.Gly32Val) variant of SRD5A2 (P31213)
G32V (p.Gly32Val) 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 0.21 / 1. The record also includes population frequency data and structural context.
G32V (p.Gly32Val) variant details
- p.Gly32Val
- rs1328422263
- ClinGen CA346599117
- ClinVar RCV001511581
- TOPMed rs1328422263
- Benign
- 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- CADD 9.64
- PolyPhen-2 0.26
- SIFT 0.37
- ClinVar: Benign (3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency)
- EBI: Benign
- UniProt: Benign
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available