E31K (p.Glu31Lys) variant of VCL (Vinculin)
E31K (p.Glu31Lys) in VCL (Vinculin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
E31K (p.Glu31Lys) variant details
- p.Glu31Lys
- gnomAD 10-73998298-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.28
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available