T8R (p.Thr8Arg) variant of VCL (Vinculin)
T8R (p.Thr8Arg) 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, published literature, and structural context.
T8R (p.Thr8Arg) variant details
- p.Thr8Arg
- gnomAD 10-73998230-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- REVEL 0.57
- CADD 27.20
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available