V9G (p.Val9Gly) variant of G6PC2 (Glucose-6-phosphatase 2)
V9G (p.Val9Gly) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
V9G (p.Val9Gly) variant details
- p.Val9Gly
- gnomAD 2-168901357-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- REVEL 0.93
- CADD 27.40
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available