R145W (p.Arg145Trp) variant of SRD5A2 (P31213)
R145W (p.Arg145Trp) 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 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R145W (p.Arg145Trp) variant details
- p.Arg145Trp
- rs759561106
- ClinGen CA1599943
- ClinVar RCV003501403
- ClinVar RCV005220746
- Pathogenic/Likely pathogenic
- not provided; 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.00
- 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:MSL population (allele frequency 0.013)
- Structural context available
- Cited in: SRD5A2 gene analysis in an Italian population of under-masculinized 46,XY subjects. (PMID 16181229)
- Cited in: Identification of missense mutations in the SRD5A2 gene from patients with steroid 5alpha-reductase 2 deficiency. (PMID 10718838)