T52K (p.Thr52Lys) variant of G6PC2 (Glucose-6-phosphatase 2)
T52K (p.Thr52Lys) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
T52K (p.Thr52Lys) variant details
- p.Thr52Lys
- ESP rs371294159
- ExAC rs371294159
- TOPMed rs371294159
- gnomAD rs371294159
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.21
- CADD 15.10
- PolyPhen-2 0.04
- SIFT 0.58
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available