M5I (p.Met5Ile) variant of G6PC1 (P35575)
M5I (p.Met5Ile) 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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
M5I (p.Met5Ile) variant details
- p.Met5Ile
- rs374766396
- ClinGen CA399649733
- NCI-TCGA Cosmic COSV9952
- cosmic curated COSV99520
- Likely pathogenic
- Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- REVEL 0.76
- CADD 26.20
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Likely pathogenic (Glycogen storage disease due to glucose-6-phosphatase deficiency)
- EBI: Likely pathogenic (in GSD1A)
- UniProt: Likely pathogenic (in GSD1A)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- 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)