I12V (p.Ile12Val) variant of VCL (Vinculin)
I12V (p.Ile12Val) in VCL (Vinculin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
I12V (p.Ile12Val) variant details
- p.Ile12Val
- ExAC rs770570643
- gnomAD rs770570643
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.23
- CADD 26.60
- PolyPhen-2 0.89
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available