I1628T (p.Ile1628Thr) variant of VWF (von Willebrand factor)
I1628T (p.Ile1628Thr) 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 2A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
I1628T (p.Ile1628Thr) variant details
- p.Ile1628Thr
- rs61750584
- ClinGen CA114115
- ClinVar RCV000000308
- ClinVar RCV000086808
- Pathogenic
- Von Willebrand disease type 2A
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.70
- AlphaMissense 0.98
- MetaLR 0.76
- MetaSVM 0.76
- CADD 23.80
- PolyPhen-2 0.75
- ClinVar: Pathogenic (Von Willebrand disease type 2A)
- EBI: Pathogenic (in VWD2)
- UniProt: Pathogenic (in VWD2)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Molecular study of von Willebrand disease: identification of potential mutations in patients with type IIA and type IIB. (PMID 1420817)
- Cited in: Analysis of the relationship of von Willebrand disease (vWD) and hereditary hemorrhagic telangiectasia and… (PMID 1673047)