V16L (p.Val16Leu) variant of VCL (Vinculin)
V16L (p.Val16Leu) in VCL (Vinculin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
V16L (p.Val16Leu) variant details
- p.Val16Leu
- gnomAD 10-73998253-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- REVEL 0.32
- CADD 29.70
- PolyPhen-2 0.94
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available