G184V (p.Gly184Val) variant of G6PC1 (P35575)
G184V (p.Gly184Val) in G6PC1 (P35575) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Glycogen storage disease due to glucose-6-phosphatase deficiency type IA. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
G184V (p.Gly184Val) variant details
- p.Gly184Val
- rs104894569
- ClinGen CA16043527
- ClinVar RCV000415061
- UniProt VAR 046265
- Pathogenic/Likely pathogenic
- Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- Missense
- Variant Prioritization Score for Impact Estimate 0.918
- AlphaMissense 0.99
- MetaLR 0.87
- MetaSVM 0.96
- PolyPhen-2 0.86
- SIFT 0.00
- EVE 0.95
- ClinVar: Pathogenic/Likely pathogenic (Glycogen storage disease due to glucose-6-phosphatase deficiency)
- EBI: Pathogenic (in GSD1A)
- UniProt: Pathogenic (in GSD1A)
- 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: Glycogen storage disease type Ia: four novel mutations (175delGG, R170X, G266V and V338F) identified. Mutations in… (PMID 10094563)