K6* (p.Lys6Ter) variant of TRPM4 (Q8TD43)
K6* (p.Lys6Ter) in TRPM4 (Q8TD43) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
K6* (p.Lys6Ter) variant details
- p.Lys6Ter
- gnomAD 19-49157882-A-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.721
- CADD 42.00
- Population evidence available
- Structural context available
- Literature evidence available