R20* (p.Arg20Ter) variant of G6PC2 (Glucose-6-phosphatase 2)
R20* (p.Arg20Ter) in G6PC2 (Glucose-6-phosphatase 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
R20* (p.Arg20Ter) variant details
- p.Arg20Ter
- gnomAD rs1275647193
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.414
- CADD 34.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available