T55N (p.Thr55Asn) variant of G6PC2 (Glucose-6-phosphatase 2)
T55N (p.Thr55Asn) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
T55N (p.Thr55Asn) variant details
- p.Thr55Asn
- gnomAD 2-168901495-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- REVEL 0.52
- CADD 23.90
- PolyPhen-2 0.96
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available