I1416T (p.Ile1416Thr) variant of VWF (von Willebrand factor)
I1416T (p.Ile1416Thr) in VWF (von Willebrand factor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary von Willebrand disease; von Willebrand disease type 2; von Willebrand. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
I1416T (p.Ile1416Thr) variant details
- p.Ile1416Thr
- rs61750081
- ClinGen CA383503536
- ClinVar RCV000506329
- ClinVar RCV001563671
- Pathogenic/Likely pathogenic
- Hereditary von Willebrand disease; von Willebrand disease type 2; von Willebrand
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- REVEL 0.72
- MetaLR 0.85
- MetaSVM 0.95
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hereditary von Willebrand disease; von Willebrand disease type 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Cited in: Von Willebrand Disease. (PMID 20301765)