L15M (p.Leu15Met) variant of G6PC2 (Glucose-6-phosphatase 2)
L15M (p.Leu15Met) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
L15M (p.Leu15Met) variant details
- p.Leu15Met
- ExAC rs747911600
- gnomAD rs747911600
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- REVEL 0.70
- CADD 24.40
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available