I1309V (p.Ile1309Val) variant of VWF (von Willebrand factor)
I1309V (p.Ile1309Val) in VWF (von Willebrand factor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Von Willebrand disease type 2B. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes published literature and structural context.
I1309V (p.Ile1309Val) variant details
- p.Ile1309Val
- rs61749389
- ClinGen CA228492
- ClinVar RCV000086706
- ClinVar RCV000678766
- Pathogenic
- Von Willebrand disease type 2B
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- AlphaMissense 0.24
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 0.76
- SIFT 0.02
- EVE 0.57
- ClinVar: Pathogenic (Von Willebrand disease type 2B)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Von Willebrand Disease. (PMID 20301765)