H52L (p.His52Leu) variant of G6PC1 (P35575)
H52L (p.His52Leu) 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 0.57 / 1. The record also includes published literature and structural context.
H52L (p.His52Leu) variant details
- p.His52Leu
- rs1475897381
- ClinGen CA399650927
- ClinVar RCV003445327
- Uncertain significance
- Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- AlphaMissense 0.29
- MetaLR 0.54
- MetaSVM -0.06
- PolyPhen-2 1.00
- SIFT 0.04
- EVE 0.86
- ClinVar: Uncertain significance (Glycogen storage disease due to glucose-6-phosphatase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)