G66R (p.Gly66Arg) variant of SRD5A2 (P31213)
G66R (p.Gly66Arg) in SRD5A2 (P31213) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data.
G66R (p.Gly66Arg) variant details
- p.Gly66Arg
- rs550866120
- ClinGen CA1600013
- ClinVar RCV003317732
- ClinVar RCV003777292
- Conflicting interpretations
- not specified; 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- CADD 22.20
- PolyPhen-2 0.92
- SIFT 0.34
- ClinVar: Conflicting classifications of pathogenicity (not specified; 3-Oxo-5 alpha-steroid delta 4-dehydrogenase defic)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)