A50T (p.Ala50Thr) variant of VCL (Vinculin)
A50T (p.Ala50Thr) in VCL (Vinculin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
A50T (p.Ala50Thr) variant details
- p.Ala50Thr
- Ensembl rs1840155325
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- REVEL 0.56
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available