E10Q (p.Glu10Gln) variant of VCL (Vinculin)
E10Q (p.Glu10Gln) in VCL (Vinculin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
E10Q (p.Glu10Gln) variant details
- p.Glu10Gln
- gnomAD 10-73998235-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- REVEL 0.61
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available