I58T (p.Ile58Thr) variant of G6PC2 (Glucose-6-phosphatase 2)
I58T (p.Ile58Thr) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
I58T (p.Ile58Thr) variant details
- p.Ile58Thr
- TOPMed rs1228183177
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- REVEL 0.89
- CADD 26.10
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available