E5G (p.Glu5Gly) variant of TRPM4 (Q8TD43)
E5G (p.Glu5Gly) in TRPM4 (Q8TD43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
E5G (p.Glu5Gly) variant details
- p.Glu5Gly
- gnomAD 19-49157880-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 32.00
- PolyPhen-2 0.54
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available