V47M (p.Val47Met) variant of VCL (Vinculin)
V47M (p.Val47Met) in VCL (Vinculin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
V47M (p.Val47Met) variant details
- p.Val47Met
- gnomAD 10-73998346-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- REVEL 0.56
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available