M29V (p.Met29Val) variant of G6PC2 (Glucose-6-phosphatase 2)
M29V (p.Met29Val) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
M29V (p.Met29Val) variant details
- p.Met29Val
- gnomAD 2-168901416-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.18
- CADD 11.40
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available