R246W (p.Arg246Trp) variant of SRD5A2 (P31213)
R246W (p.Arg246Trp) in SRD5A2 (P31213) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
R246W (p.Arg246Trp) variant details
- p.Arg246Trp
- rs121434244
- ClinGen CA340064
- ClinVar RCV000003501
- ClinVar RCV001574452
- Pathogenic
- not provided; 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- CADD 26.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: 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:MXL population (allele frequency 0.0081)
- Structural context available
- Cited in: Brief report: the molecular basis of steroid 5 alpha-reductase deficiency in a large Dominican kindred. (PMID 1406794)
- Cited in: Molecular genetics of steroid 5 alpha-reductase 2 deficiency. (PMID 1522235)