G4E (p.Gly4Glu) variant of G6PC1 (P35575)
G4E (p.Gly4Glu) in G6PC1 (P35575) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
G4E (p.Gly4Glu) variant details
- p.Gly4Glu
- rs1416734457
- NCI-TCGA Cosmic COSV9952
- cosmic curated COSV99520
- TOPMed rs1416734457
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.13
- CADD 16.70
- PolyPhen-2 0.04
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available