G54R (p.Gly54Arg) variant of G6PC2 (Glucose-6-phosphatase 2)
G54R (p.Gly54Arg) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
G54R (p.Gly54Arg) variant details
- p.Gly54Arg
- gnomAD 2-168901491-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- REVEL 0.90
- CADD 28.80
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available