K1794E (p.Lys1794Glu) variant of VWF (von Willebrand factor)
K1794E (p.Lys1794Glu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
K1794E (p.Lys1794Glu) variant details
- p.Lys1794Glu
- rs267607355
- ClinGen CA228719
- ClinVar RCV000086838
- ClinVar RCV002264666
- Pathogenic/Likely pathogenic
- von Willebrand disorder; von Willebrand disease type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.675
- REVEL 0.71
- CADD 25.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (von Willebrand disorder; von Willebrand disease type 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Von Willebrand Disease. (PMID 20301765)