E28G (p.Glu28Gly) variant of VCL (Vinculin)
E28G (p.Glu28Gly) in VCL (Vinculin) is a protein-truncating 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.
E28G (p.Glu28Gly) variant details
- p.Glu28Gly
- rs750937217
- gnomAD 10-73998288-C-CG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.519
- CADD 33.00
- Population evidence available
- Structural context available
- Literature evidence available