E115* (p.Glu115Ter) variant of TULP1 (Tubby-related protein 1)
E115* (p.Glu115Ter) in TULP1 (Tubby-related protein 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
E115* (p.Glu115Ter) variant details
- p.Glu115Ter
- Ensembl rs2150928336
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.393
- CADD 34.00
- Population evidence available
- Structural context available