V47A (p.Val47Ala) variant of VCL (Vinculin)
V47A (p.Val47Ala) in VCL (Vinculin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
V47A (p.Val47Ala) variant details
- p.Val47Ala
- gnomAD 10-73998347-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.39
- CADD 28.00
- PolyPhen-2 0.83
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available