Q8* (p.Gln8Ter) variant of TRPM4 (Q8TD43)
Q8* (p.Gln8Ter) in TRPM4 (Q8TD43) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
Q8* (p.Gln8Ter) variant details
- p.Gln8Ter
- gnomAD 19-49157888-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.865
- CADD 46.00
- Population evidence available
- Structural context available
- Literature evidence available