A65S (p.Ala65Ser) variant of G6PC1 (P35575)
A65S (p.Ala65Ser) in G6PC1 (P35575) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Glycogen storage disease due to glucose-6-phosphatase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
A65S (p.Ala65Ser) variant details
- p.Ala65Ser
- rs369472089
- ClinGen CA8587500
- ClinVar RCV001344123
- ClinVar RCV004036419
- Conflicting interpretations
- not specified; Glycogen storage disease due to glucose-6-phosphatase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- REVEL 0.60
- AlphaMissense 0.89
- MetaLR 0.68
- MetaSVM 0.50
- CADD 26.40
- PolyPhen-2 0.96
- ClinVar: Conflicting classifications of pathogenicity (not specified; Glycogen storage disease due to glucose-6-phospha)
- EBI: Variant of uncertain significance (in GSD1A)
- UniProt: Uncertain significance (in GSD1A)
- Most common in the Non-Finnish European population (allele frequency 0.00013)
- 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)