T8M (p.Thr8Met) variant of VCL (Vinculin)
T8M (p.Thr8Met) in VCL (Vinculin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
T8M (p.Thr8Met) variant details
- p.Thr8Met
- gnomAD 10-73998230-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- REVEL 0.55
- CADD 27.90
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available