F43L (p.Phe43Leu) variant of G6PC1 (P35575)
F43L (p.Phe43Leu) in G6PC1 (P35575) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
F43L (p.Phe43Leu) variant details
- p.Phe43Leu
- rs775667677
- ClinGen CA8587494
- ClinVar RCV003625330
- ExAC rs775667677
- Uncertain significance
- Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- REVEL 0.87
- CADD 27.90
- PolyPhen-2 0.98
- SIFT 0.02
- ClinVar: Uncertain significance (Glycogen storage disease due to glucose-6-phosphatase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-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)