G54E (p.Gly54Glu) variant of G6PC2 (Glucose-6-phosphatase 2)
G54E (p.Gly54Glu) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
G54E (p.Gly54Glu) variant details
- p.Gly54Glu
- gnomAD rs1447656406
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- REVEL 0.84
- CADD 26.00
- PolyPhen-2 0.92
- SIFT 0.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available