V47A (p.Val47Ala) variant of TRPM4 (Q8TD43)
V47A (p.Val47Ala) in TRPM4 (Q8TD43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
V47A (p.Val47Ala) variant details
- p.Val47Ala
- Ensembl rs1967163999
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.45
- ESM-1b 0.22
- AlphaMissense 0.22
- CADD 24.00
- PolyPhen-2 0.73
- SIFT 0.05
- Population evidence available
- Structural context available