P43H (p.Pro43His) variant of VCL (Vinculin)
P43H (p.Pro43His) in VCL (Vinculin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
P43H (p.Pro43His) variant details
- p.Pro43His
- gnomAD 10-73998335-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.39
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available