Y235F (p.Tyr235Phe) variant of SRD5A2 (P31213)
Y235F (p.Tyr235Phe) in SRD5A2 (P31213) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of See cases; 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, published literature, and structural context.
Y235F (p.Tyr235Phe) variant details
- p.Tyr235Phe
- rs772283403
- ClinGen CA1599849
- ClinVar RCV000529458
- ClinVar RCV004584395
- Pathogenic
- See cases; 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- CADD 26.60
- PolyPhen-2 0.79
- SIFT 0.40
- ClinVar: Pathogenic (See cases; 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficienc)
- EBI: Pathogenic (in PPSH)
- UniProt: Pathogenic (in PPSH)
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- 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)