E96* (p.Glu96Ter) variant of TULP1 (Tubby-related protein 1)
E96* (p.Glu96Ter) in TULP1 (Tubby-related protein 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
E96* (p.Glu96Ter) variant details
- p.Glu96Ter
- TOPMed rs867991935
- gnomAD rs867991935
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.596
- CADD 36.00
- Population evidence available
- Structural context available