I73F (p.Ile73Phe) variant of VWF (von Willebrand factor)
I73F (p.Ile73Phe) in VWF (von Willebrand factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
I73F (p.Ile73Phe) variant details
- p.Ile73Phe
- Ensembl rs921931922
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.10
- MetaLR 0.14
- MetaSVM -0.94
- CADD 9.89
- PolyPhen-2 0.26
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available