I140F (p.Ile140Phe) variant of VWF (von Willebrand factor)
I140F (p.Ile140Phe) in VWF (von Willebrand factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
I140F (p.Ile140Phe) variant details
- p.Ile140Phe
- 1000Genomes rs148218885
- ESP rs148218885
- ExAC rs148218885
- TOPMed rs148218885
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.30
- MetaLR 0.24
- MetaSVM -0.72
- CADD 24.80
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available