A42E (p.Ala42Glu) variant of VCL (Vinculin)
A42E (p.Ala42Glu) in VCL (Vinculin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
A42E (p.Ala42Glu) variant details
- p.Ala42Glu
- gnomAD 10-73998332-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.13
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.24
- Population evidence available
- Structural context available
- Literature evidence available