E197D (p.Glu197Asp) variant of SRD5A2 (P31213)
E197D (p.Glu197Asp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
E197D (p.Glu197Asp) variant details
- p.Glu197Asp
- rs121434253
- NCI-TCGA Cosmic COSV9925
- ClinGen CA340085
- ClinVar RCV000003513
- Pathogenic
- 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- CADD 24.00
- PolyPhen-2 0.93
- SIFT 0.06
- ClinVar: Pathogenic (3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency)
- EBI: Pathogenic (in PPSH)
- UniProt: Pathogenic (in PPSH)
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Cited in: Uniparental disomy in steroid 5alpha-reductase 2 deficiency. (PMID 10999800)
- Cited in: Identification of missense mutations in the SRD5A2 gene from patients with steroid 5alpha-reductase 2 deficiency. (PMID 10718838)