E10K (p.Glu10Lys) variant of VCL (Vinculin)
E10K (p.Glu10Lys) in VCL (Vinculin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
E10K (p.Glu10Lys) variant details
- p.Glu10Lys
- gnomAD 10-73998235-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- REVEL 0.65
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available