G85D (p.Gly85Asp) variant of SRD5A2 (P31213)
G85D (p.Gly85Asp) in SRD5A2 (P31213) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in PPSH. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and published literature.
G85D (p.Gly85Asp) variant details
- p.Gly85Asp
- rs1351269392
- UniProt VAR 013130
- TOPMed rs1351269392
- gnomAD rs1351269392
- Pathogenic
- in PPSH
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- CADD 23.40
- PolyPhen-2 0.66
- SIFT 0.20
- EBI: Pathogenic (in PPSH)
- UniProt: Pathogenic (in PPSH)
- Most common in the African/African-American population (allele frequency 0.00041)
- Cited in: Identification of missense mutations in the SRD5A2 gene from patients with steroid 5alpha-reductase 2 deficiency. (PMID 10718838)
- Cited in: Biochemical and pharmacogenetic dissection of human steroid 5 alpha-reductase type II. (PMID 10898110)