G359D (p.Gly359Asp) variant of H6PD (O95479)
G359D (p.Gly359Asp) in H6PD (O95479) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cortisone reductase deficiency 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
G359D (p.Gly359Asp) variant details
- p.Gly359Asp
- rs387907167
- ClinGen CA129822
- cosmic curated COSV66232
- ClinVar RCV000024291
- Pathogenic
- Cortisone reductase deficiency 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.919
- REVEL 0.99
- MetaLR 0.99
- MetaSVM 0.92
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Cortisone reductase deficiency 1)
- EBI: Pathogenic (in CORTRD1)
- UniProt: Pathogenic (in CORTRD1)
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available
- Cited in: Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase… (PMID 12858176)
- Cited in: Steroid biomarkers and genetic studies reveal inactivating mutations in hexose-6-phosphate dehydrogenase in patients… (PMID 18628520)