H14Y (p.His14Tyr) variant of G6PC2 (Glucose-6-phosphatase 2)
H14Y (p.His14Tyr) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
H14Y (p.His14Tyr) variant details
- p.His14Tyr
- ExAC rs746671578
- gnomAD rs746671578
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.16
- CADD 11.60
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available