E5* (p.Glu5Ter) variant of TRPM4 (Q8TD43)
E5* (p.Glu5Ter) in TRPM4 (Q8TD43) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
E5* (p.Glu5Ter) variant details
- p.Glu5Ter
- gnomAD 19-49157879-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.74
- CADD 41.00
- Population evidence available
- Structural context available
- Literature evidence available