H44Y (p.His44Tyr) variant of TRPM4 (Q8TD43)
H44Y (p.His44Tyr) in TRPM4 (Q8TD43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
H44Y (p.His44Tyr) variant details
- p.His44Tyr
- gnomAD 19-49166078-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- REVEL 0.51
- ESM-1b 1.00
- AlphaMissense 0.72
- CADD 23.30
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available