P44T (p.Pro44Thr) variant of G6PC2 (Glucose-6-phosphatase 2)
P44T (p.Pro44Thr) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
P44T (p.Pro44Thr) variant details
- p.Pro44Thr
- gnomAD 2-168901461-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- REVEL 0.92
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Literature evidence available