A274V (p.Ala274Val) variant of G6PC1 (P35575)
A274V (p.Ala274Val) 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 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
A274V (p.Ala274Val) variant details
- p.Ala274Val
- rs774212157
- ClinGen CA8587658
- ClinVar RCV001225198
- ExAC rs774212157
- Pathogenic/Likely pathogenic
- Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- REVEL 0.85
- MetaLR 0.44
- MetaSVM -0.03
- CADD 22.60
- PolyPhen-2 0.17
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Glycogen storage disease due to glucose-6-phosphatase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available
- Cited in: Glycogen Storage Disease Type I. (PMID 20301489)
- Cited in: Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical… (PMID 25356975)