V74I (p.Val74Ile) variant of G6PC1 (P35575)
V74I (p.Val74Ile) in G6PC1 (P35575) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Glycogen storage disease due to glucose-6-phosphatase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
V74I (p.Val74Ile) variant details
- p.Val74Ile
- rs751959283
- ClinGen CA8587505
- cosmic curated COSV53831
- ClinVar RCV001401061
- Conflicting interpretations
- not specified; Glycogen storage disease due to glucose-6-phosphatase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.18
- CADD 19.30
- PolyPhen-2 0.05
- SIFT 0.41
- ClinVar: Conflicting classifications of pathogenicity (not specified; Glycogen storage disease due to glucose-6-phospha)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:PIMA population (allele frequency 0.045)
- 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)