D39E (p.Asp39Glu) variant of VCL (Vinculin)
D39E (p.Asp39Glu) in VCL (Vinculin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
D39E (p.Asp39Glu) variant details
- p.Asp39Glu
- gnomAD 10-73998322-G-GA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.718
- CADD 33.00
- Population evidence available
- Structural context available
- Literature evidence available