A45V (p.Ala45Val) variant of VCL (Vinculin)
A45V (p.Ala45Val) in VCL (Vinculin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
A45V (p.Ala45Val) variant details
- p.Ala45Val
- gnomAD 10-73998341-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.15
- CADD 23.30
- PolyPhen-2 0.25
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available