R6G (p.Arg6Gly) variant of G6PC2 (Glucose-6-phosphatase 2)
R6G (p.Arg6Gly) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
R6G (p.Arg6Gly) variant details
- p.Arg6Gly
- gnomAD 2-168901347-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.25
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 0.46
- Population evidence available
- Structural context available
- Literature evidence available