G122V (p.Gly122Val) variant of G6PC1 (P35575)
G122V (p.Gly122Val) 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 0.52 / 1. The record also includes published literature and structural context.
G122V (p.Gly122Val) variant details
- p.Gly122Val
- rs759982943
- ClinGen CA399653798
- ClinVar RCV002239890
- ExAC rs759982943
- Likely pathogenic
- Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- AlphaMissense 0.46
- MetaLR 0.51
- MetaSVM -0.08
- PolyPhen-2 1.00
- SIFT 0.11
- EVE 0.39
- 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 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)