R246Q (p.Arg246Gln) variant of SRD5A2 (P31213)
R246Q (p.Arg246Gln) in SRD5A2 (P31213) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
R246Q (p.Arg246Gln) variant details
- p.Arg246Gln
- rs9332967
- ClinGen CA1599846
- ClinVar RCV000546486
- ClinVar RCV004755953
- Pathogenic/Likely pathogenic
- 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- CADD 28.10
- PolyPhen-2 0.94
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency)
- EBI: Pathogenic (in PPSH)
- UniProt: Pathogenic (in PPSH)
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Cited in: Identification of missense mutations in the SRD5A2 gene from patients with steroid 5alpha-reductase 2 deficiency. (PMID 10718838)
- Cited in: SRD5A2 gene analysis in an Italian population of under-masculinized 46,XY subjects. (PMID 16181229)