I1416N (p.Ile1416Asn) variant of VWF (von Willebrand factor)
I1416N (p.Ile1416Asn) 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 von Willebrand disorder; Hereditary von Willebrand disease; not provided. 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.
I1416N (p.Ile1416Asn) variant details
- p.Ile1416Asn
- rs61750081
- ClinGen CA228569
- ClinVar RCV000086749
- ClinVar RCV000852123
- Pathogenic/Likely pathogenic
- von Willebrand disorder; Hereditary von Willebrand disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- REVEL 0.71
- MetaLR 0.85
- MetaSVM 0.95
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (von Willebrand disorder; Hereditary von Willebrand disease; not)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Von Willebrand Disease. (PMID 20301765)