H179P (p.His179Pro) variant of G6PC1 (P35575)
H179P (p.His179Pro) 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 0.58 / 1. The record also includes published literature and structural context.
H179P (p.His179Pro) variant details
- p.His179Pro
- rs2151931788
- UniProt VAR 046264
- Ensembl rs2151931788
- Likely pathogenic
- Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- AlphaMissense 0.61
- MetaLR 0.48
- MetaSVM -0.02
- PolyPhen-2 0.32
- SIFT 0.00
- EVE 0.95
- ClinVar: Likely pathogenic (Glycogen storage disease due to glucose-6-phosphatase deficiency)
- EBI: Pathogenic (in GSD1A)
- UniProt: Pathogenic (in GSD1A)
- Structural context available
- Cited in: Glycogen storage disease type Ia: molecular diagnosis of 51 Japanese patients and characterization of splicing… (PMID 10748407)
- Cited in: Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia. (PMID 10070617)