H176Y (p.His176Tyr) variant of G6PC1 (P35575)
H176Y (p.His176Tyr) 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 0.87 / 1. The record also includes published literature and structural context.
H176Y (p.His176Tyr) variant details
- p.His176Tyr
- rs1597990906
- ClinGen CA399654971
- ClinVar RCV000989856
- Ensembl rs1597990906
- Likely pathogenic
- Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- Missense
- Variant Prioritization Score for Impact Estimate 0.871
- AlphaMissense 0.96
- MetaLR 0.91
- MetaSVM 0.86
- PolyPhen-2 0.06
- SIFT 0.00
- EVE 0.96
- ClinVar: Likely pathogenic (Glycogen storage disease due to glucose-6-phosphatase deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)