Q126R (p.Gln126Arg) variant of SRD5A2 (P31213)
Q126R (p.Gln126Arg) in SRD5A2 (P31213) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency; not provided. 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.
Q126R (p.Gln126Arg) variant details
- p.Gln126Arg
- rs368386747
- ClinGen CA1599952
- ClinVar RCV000413020
- ClinVar RCV000545602
- Pathogenic
- 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- CADD 26.30
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Pathogenic (3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency; not prov)
- EBI: Pathogenic (in PPSH)
- UniProt: Pathogenic (in PPSH)
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Cited in: New mutations, hotspots, and founder effects in Brazilian patients with steroid 5alpha-reductase deficiency type 2. (PMID 15770495)
- Cited in: Identification of missense mutations in the SRD5A2 gene from patients with steroid 5alpha-reductase 2 deficiency. (PMID 10718838)