V55I (p.Val55Ile) variant of VCL (Vinculin)
V55I (p.Val55Ile) in VCL (Vinculin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
V55I (p.Val55Ile) variant details
- p.Val55Ile
- gnomAD 10-73998370-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.21
- CADD 23.70
- PolyPhen-2 0.03
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available