D879N (p.Asp879Asn) variant of VWF (von Willebrand factor)
D879N (p.Asp879Asn) in VWF (von Willebrand factor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of von Willebrand disease type 2N. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
D879N (p.Asp879Asn) variant details
- p.Asp879Asn
- rs61748485
- ClinGen CA228357
- ClinVar RCV000086623
- ClinVar RCV004812300
- Pathogenic
- von Willebrand disease type 2N
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- REVEL 0.66
- CADD 27.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (von Willebrand disease type 2N)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 0.00046)
- Structural context available