T52R (p.Thr52Arg) variant of G6PC2 (Glucose-6-phosphatase 2)
T52R (p.Thr52Arg) 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, published literature, and structural context.
T52R (p.Thr52Arg) variant details
- p.Thr52Arg
- gnomAD 2-168901486-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.22
- CADD 15.20
- PolyPhen-2 0.07
- SIFT 0.45
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available