D38V (p.Asp38Val) variant of G6PC1 (P35575)
D38V (p.Asp38Val) in G6PC1 (P35575) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not specified; not provided; Glycogen storage disease due to glucose-6-phosphata. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
D38V (p.Asp38Val) variant details
- p.Asp38Val
- rs104894565
- ClinGen CA256185
- ClinVar RCV000012784
- ClinVar RCV000507730
- Pathogenic
- not specified; not provided; Glycogen storage disease due to glucose-6-phosphata
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- REVEL 0.95
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not specified; not provided; Glycogen storage disease due to glu)
- EBI: Pathogenic (in GSD1A)
- UniProt: Pathogenic (in GSD1A)
- Most common in the REMAINING population (allele frequency 9.9e-05)
- Structural context available
- Cited in: Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia. (PMID 10070617)
- Cited in: Genetic heterogeneity of glycogen storage disease type Ia in France: a study of 48 patients. (PMID 11058903)