T24A (p.Thr24Ala) variant of G6PC2 (Glucose-6-phosphatase 2)
T24A (p.Thr24Ala) 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.
T24A (p.Thr24Ala) variant details
- p.Thr24Ala
- gnomAD 2-168901401-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.15
- CADD 14.70
- PolyPhen-2 0.00
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available