C46Y (p.Cys46Tyr) variant of G6PC2 (Glucose-6-phosphatase 2)
C46Y (p.Cys46Tyr) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
C46Y (p.Cys46Tyr) variant details
- p.Cys46Tyr
- Ensembl rs753657066
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.41
- CADD 23.70
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available