H231R (p.His231Arg) variant of SRD5A2 (P31213)
H231R (p.His231Arg) 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 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
H231R (p.His231Arg) variant details
- p.His231Arg
- rs121434251
- ClinGen CA340081
- ClinVar RCV000003510
- ClinVar RCV001552751
- Pathogenic
- not provided; 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- CADD 26.00
- PolyPhen-2 0.95
- SIFT 0.17
- 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 East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Molecular characterization of 5 alpha-reductase type 2 deficiency and fertility in a Swedish family. (PMID 9745434)
- Cited in: Identification of missense mutations in the SRD5A2 gene from patients with steroid 5alpha-reductase 2 deficiency. (PMID 10718838)