C35* (p.Cys35Ter) variant of TRPM4 (Q8TD43)
C35* (p.Cys35Ter) in TRPM4 (Q8TD43) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
C35* (p.Cys35Ter) variant details
- p.Cys35Ter
- gnomAD 19-49166053-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.777
- CADD 39.00
- Population evidence available
- Structural context available
- Literature evidence available