M29I (p.Met29Ile) variant of G6PC2 (Glucose-6-phosphatase 2)
M29I (p.Met29Ile) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
M29I (p.Met29Ile) variant details
- p.Met29Ile
- gnomAD 2-168901418-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.19
- CADD 13.40
- PolyPhen-2 0.00
- SIFT 0.59
- Population evidence available
- Structural context available
- Literature evidence available