A50D (p.Ala50Asp) variant of VCL (Vinculin)
A50D (p.Ala50Asp) in VCL (Vinculin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
A50D (p.Ala50Asp) variant details
- p.Ala50Asp
- gnomAD 10-73998356-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- REVEL 0.71
- CADD 30.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available