A207D (p.Ala207Asp) variant of SRD5A2 (P31213)
A207D (p.Ala207Asp) 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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
A207D (p.Ala207Asp) variant details
- p.Ala207Asp
- rs767564684
- ClinGen CA1599876
- ClinVar RCV000634581
- UniProt VAR 025857
- Pathogenic/Likely pathogenic
- 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- CADD 26.30
- PolyPhen-2 0.52
- SIFT 0.18
- 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 East Asian population (allele frequency 0.00015)
- 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)