H5D (p.His5Asp) variant of G6PC2 (Glucose-6-phosphatase 2)
H5D (p.His5Asp) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
H5D (p.His5Asp) variant details
- p.His5Asp
- TOPMed rs1370237922
- gnomAD rs1370237922
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- REVEL 0.72
- CADD 25.20
- PolyPhen-2 0.92
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available