I38M (p.Ile38Met) variant of G6PC2 (Glucose-6-phosphatase 2)
I38M (p.Ile38Met) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
I38M (p.Ile38Met) variant details
- p.Ile38Met
- gnomAD 2-168901445-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.34
- CADD 15.80
- PolyPhen-2 0.36
- SIFT 0.01
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Literature evidence available