I79L (p.Ile79Leu) variant of VCL (Vinculin)
I79L (p.Ile79Leu) in VCL (Vinculin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
I79L (p.Ile79Leu) variant details
- p.Ile79Leu
- gnomAD 10-74043149-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.19
- CADD 22.60
- PolyPhen-2 0.17
- SIFT 0.27
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available