L5* (p.Leu5Ter) variant of H6PD (O95479)
L5* (p.Leu5Ter) in H6PD (O95479) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
L5* (p.Leu5Ter) variant details
- p.Leu5Ter
- gnomAD 1-9239998-GT-G
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.676
- CADD 21.60
- Population evidence available
- Structural context available
- Literature evidence available