V45I (p.Val45Ile) variant of G6PC1 (P35575)
V45I (p.Val45Ile) in G6PC1 (P35575) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided; Glycogen storage disease due to glucose-6-phosphata. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
V45I (p.Val45Ile) variant details
- p.Val45Ile
- rs145749644
- ClinGen CA290783715
- NCI-TCGA Cosmic COSV5383
- cosmic curated COSV53832
- Uncertain significance
- not specified; not provided; Glycogen storage disease due to glucose-6-phosphata
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.13
- CADD 13.80
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not specified; not provided; Glycogen storage disease due to glu)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 5e-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)