A1437T (p.Ala1437Thr) variant of VWF (von Willebrand factor)
A1437T (p.Ala1437Thr) 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; von Willebrand disease type 1; von Willebrand disease t. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
A1437T (p.Ala1437Thr) variant details
- p.Ala1437Thr
- rs61750084
- ClinGen CA228575
- ClinVar RCV000086752
- ClinVar RCV002243741
- Pathogenic/Likely pathogenic
- von Willebrand disorder; von Willebrand disease type 1; von Willebrand disease t
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- REVEL 0.81
- MetaLR 0.97
- MetaSVM 1.08
- CADD 24.20
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (von Willebrand disorder; von Willebrand disease type 1; von Will)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Von Willebrand Disease. (PMID 20301765)