F80S (p.Phe80Ser) variant of G6PC1 (P35575)
F80S (p.Phe80Ser) 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 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
F80S (p.Phe80Ser) variant details
- p.Phe80Ser
- rs750886274
- ClinGen CA8587524
- ClinVar RCV003092710
- ExAC rs750886274
- Likely pathogenic
- Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- REVEL 0.80
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.06
- ClinVar: Likely pathogenic (Glycogen storage disease due to glucose-6-phosphatase deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)