L10I (p.Leu10Ile) variant of G6PC2 (Glucose-6-phosphatase 2)
L10I (p.Leu10Ile) 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.
L10I (p.Leu10Ile) variant details
- p.Leu10Ile
- gnomAD 2-168901359-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.24
- CADD 19.10
- PolyPhen-2 0.03
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available