H119L (p.His119Leu) variant of G6PC1 (P35575)
H119L (p.His119Leu) in G6PC1 (P35575) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
H119L (p.His119Leu) variant details
- p.His119Leu
- rs1401928680
- ClinGen CA399653744
- ClinVar RCV001070041
- UniProt VAR 046258
- Pathogenic
- Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.82
- CADD 24.20
- PolyPhen-2 0.01
- SIFT 0.03
- ClinVar: Pathogenic (Glycogen storage disease due to glucose-6-phosphatase deficiency)
- EBI: Pathogenic (in GSD1A)
- UniProt: Pathogenic (in GSD1A)
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available
- Cited in: A novel missense mutation (H119L) identified in a Taiwan Chinese family with glycogen storage disease Ia (Von Gierke… (PMID 11058910)
- Cited in: Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia. (PMID 10070617)