E7* (p.Glu7Ter) variant of TRPM4 (Q8TD43)
E7* (p.Glu7Ter) in TRPM4 (Q8TD43) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
E7* (p.Glu7Ter) variant details
- p.Glu7Ter
- gnomAD 19-49157885-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.692
- CADD 42.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available