G38E (p.Gly38Glu) variant of TRPM4 (Q8TD43)
G38E (p.Gly38Glu) in TRPM4 (Q8TD43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
G38E (p.Gly38Glu) variant details
- p.Gly38Glu
- gnomAD 19-49166061-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- REVEL 0.79
- ESM-1b 1.00
- AlphaMissense 0.57
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available