V2M (p.Val2Met) variant of TRPM4 (Q8TD43)
V2M (p.Val2Met) 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.
V2M (p.Val2Met) variant details
- p.Val2Met
- gnomAD 19-49157870-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.17
- CADD 24.40
- PolyPhen-2 0.60
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available