I12T (p.Ile12Thr) variant of G6PC2 (Glucose-6-phosphatase 2)
I12T (p.Ile12Thr) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
I12T (p.Ile12Thr) variant details
- p.Ile12Thr
- gnomAD 2-168901366-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.34
- CADD 18.30
- PolyPhen-2 0.11
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available