E7D (p.Glu7Asp) variant of TRPM4 (Q8TD43)
E7D (p.Glu7Asp) in TRPM4 (Q8TD43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
E7D (p.Glu7Asp) variant details
- p.Glu7Asp
- gnomAD 19-49157887-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.16
- CADD 19.90
- PolyPhen-2 0.01
- SIFT 0.78
- Population evidence available
- Structural context available
- Literature evidence available