Y22C (p.Tyr22Cys) variant of G6PC2 (Glucose-6-phosphatase 2)
Y22C (p.Tyr22Cys) in G6PC2 (Glucose-6-phosphatase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
Y22C (p.Tyr22Cys) variant details
- p.Tyr22Cys
- TOPMed rs1690588216
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.25
- CADD 18.20
- PolyPhen-2 0.01
- SIFT 0.16
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available