R227Q (p.Arg227Gln) variant of SRD5A2 (P31213)
R227Q (p.Arg227Gln) in SRD5A2 (P31213) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
R227Q (p.Arg227Gln) variant details
- p.Arg227Gln
- rs9332964
- ClinGen CA116158
- ClinVar RCV000003515
- ClinVar RCV000083663
- Pathogenic/Likely pathogenic
- not provided; 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- CADD 23.80
- PolyPhen-2 0.46
- SIFT 0.06
- ClinVar: Pathogenic/Likely pathogenic (not provided; 3-Oxo-5 alpha-steroid delta 4-dehydrogenase defici)
- EBI: Pathogenic (in PPSH)
- UniProt: Pathogenic (in PPSH)
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: Biochemical and pharmacogenetic dissection of human steroid 5 alpha-reductase type II. (PMID 10898110)
- Cited in: Micropenis and the 5alpha-reductase-2 (SRD5A2) gene: mutation and V89L polymorphism analysis in 81 Japanese patients. (PMID 12843198)