G21R (p.Gly21Arg) variant of SRD5A2 (P31213)
G21R (p.Gly21Arg) in SRD5A2 (P31213) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.75 / 1. The record also includes population frequency data and structural context.
G21R (p.Gly21Arg) variant details
- p.Gly21Arg
- rs1265216982
- gnomAD rs1265216982
- ClinGen CA346599190
- ClinVar RCV001940814
- Uncertain significance
- 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- CADD 23.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available