E82A (p.Glu82Ala) variant of VCL (Vinculin)
E82A (p.Glu82Ala) in VCL (Vinculin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
E82A (p.Glu82Ala) variant details
- p.Glu82Ala
- gnomAD 10-74070675-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- REVEL 0.66
- CADD 28.30
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available