E5V (p.Glu5Val) variant of TRPM4 (Q8TD43)
E5V (p.Glu5Val) in TRPM4 (Q8TD43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
E5V (p.Glu5Val) variant details
- p.Glu5Val
- gnomAD 19-49157880-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.22
- CADD 27.50
- PolyPhen-2 0.66
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available