V51I (p.Val51Ile) variant of VCL (Vinculin)
V51I (p.Val51Ile) in VCL (Vinculin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
V51I (p.Val51Ile) variant details
- p.Val51Ile
- TOPMed rs1565628951
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.22
- AlphaMissense 0.40
- MetaLR 0.31
- MetaSVM -0.11
- CADD 31.00
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available