T52I (p.Thr52Ile) variant of G6PC2 (Glucose-6-phosphatase 2)
T52I (p.Thr52Ile) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
T52I (p.Thr52Ile) variant details
- p.Thr52Ile
- ESP rs371294159
- ExAC rs371294159
- TOPMed rs371294159
- gnomAD rs371294159
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.17
- CADD 16.00
- PolyPhen-2 0.02
- SIFT 0.37
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available