A274T (p.Ala274Thr) variant of G6PC1 (P35575)
A274T (p.Ala274Thr) in G6PC1 (P35575) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
A274T (p.Ala274Thr) variant details
- p.Ala274Thr
- rs764084156
- ClinGen CA8587657
- ClinVar RCV002239900
- ExAC rs764084156
- Likely pathogenic
- Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.55
- MetaLR 0.50
- MetaSVM -0.12
- CADD 24.20
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Likely pathogenic (Glycogen storage disease due to glucose-6-phosphatase deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 3.3e-05)
- 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)