Y19C (p.Tyr19Cys) variant of G6PC2 (Glucose-6-phosphatase 2)
Y19C (p.Tyr19Cys) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
Y19C (p.Tyr19Cys) variant details
- p.Tyr19Cys
- gnomAD rs1215685943
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- REVEL 0.60
- CADD 25.50
- PolyPhen-2 0.87
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available