H5Y (p.His5Tyr) variant of G6PC2 (Glucose-6-phosphatase 2)
H5Y (p.His5Tyr) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
H5Y (p.His5Tyr) variant details
- p.His5Tyr
- gnomAD 2-168901344-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- REVEL 0.62
- CADD 23.50
- PolyPhen-2 0.95
- SIFT 0.07
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available