W50* (p.Trp50Ter) variant of G6PC1 (P35575)
W50* (p.Trp50Ter) in G6PC1 (P35575) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
W50* (p.Trp50Ter) variant details
- p.Trp50Ter
- gnomAD 17-42901025-G-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.851
- CADD 37.00
- Population evidence available
- Structural context available
- Literature evidence available