T1578N (p.Thr1578Asn) variant of VWF (von Willebrand factor)
T1578N (p.Thr1578Asn) in VWF (von Willebrand factor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Von Willebrand disease type 2A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
T1578N (p.Thr1578Asn) variant details
- p.Thr1578Asn
- rs2136411988
- ClinGen CA383499814
- ClinVar RCV002244521
- Ensembl rs2136411988
- Likely pathogenic
- Von Willebrand disease type 2A
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- AlphaMissense 0.73
- MetaLR 0.83
- MetaSVM 0.94
- PolyPhen-2 0.72
- SIFT 0.00
- EVE 0.69
- ClinVar: Likely pathogenic (Von Willebrand disease type 2A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Von Willebrand Disease. (PMID 20301765)