C37Y (p.Cys37Tyr) variant of TRPM4 (Q8TD43)
C37Y (p.Cys37Tyr) in TRPM4 (Q8TD43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
C37Y (p.Cys37Tyr) variant details
- p.Cys37Tyr
- gnomAD 19-49166058-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- REVEL 0.78
- ESM-1b 1.00
- AlphaMissense 0.92
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available