A36D (p.Ala36Asp) variant of VCL (Vinculin)
A36D (p.Ala36Asp) in VCL (Vinculin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
A36D (p.Ala36Asp) variant details
- p.Ala36Asp
- gnomAD 10-73998314-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- REVEL 0.40
- CADD 28.40
- PolyPhen-2 0.84
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available