P35Q (p.Pro35Gln) variant of G6PC2 (Glucose-6-phosphatase 2)
P35Q (p.Pro35Gln) in G6PC2 (Glucose-6-phosphatase 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
P35Q (p.Pro35Gln) variant details
- p.Pro35Gln
- rs776242682
- gnomAD 2-168901432-ACC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.625
- CADD 25.00
- Population evidence available
- Structural context available
- Literature evidence available