E55* (p.Glu55Ter) variant of PDE6B (P35913)
E55* (p.Glu55Ter) in PDE6B (P35913) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
E55* (p.Glu55Ter) variant details
- p.Glu55Ter
- gnomAD 4-625789-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.829
- CADD 42.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available