T6K (p.Thr6Lys) variant of VCL (Vinculin)
T6K (p.Thr6Lys) in VCL (Vinculin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
T6K (p.Thr6Lys) variant details
- p.Thr6Lys
- gnomAD 10-73998224-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- REVEL 0.64
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available