I140V (p.Ile140Val) variant of VWF (von Willebrand factor)
I140V (p.Ile140Val) in VWF (von Willebrand factor) is a missense change. 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.
I140V (p.Ile140Val) variant details
- p.Ile140Val
- 1000Genomes rs148218885
- ESP rs148218885
- ExAC rs148218885
- TOPMed rs148218885
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.13
- MetaLR 0.23
- MetaSVM -0.88
- CADD 23.60
- PolyPhen-2 0.89
- SIFT 0.09
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- Structural context available