L88I (p.Leu88Ile) variant of VWF (von Willebrand factor)
L88I (p.Leu88Ile) in VWF (von Willebrand factor) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
L88I (p.Leu88Ile) variant details
- p.Leu88Ile
- TOPMed rs996706475
- gnomAD rs996706475
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.24
- MetaLR 0.30
- MetaSVM -0.56
- CADD 24.00
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available