Y795C (p.Tyr795Cys) variant of VWF (von Willebrand factor)
Y795C (p.Tyr795Cys) 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 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
Y795C (p.Tyr795Cys) variant details
- p.Tyr795Cys
- rs61748478
- ClinGen CA114166
- ClinVar RCV000000340
- ClinVar RCV000086607
- Pathogenic
- von Willebrand disease type 2N
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- REVEL 0.69
- MetaLR 0.58
- MetaSVM 0.13
- CADD 26.70
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic (von Willebrand disease type 2N)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Expression of two type 2N von Willebrand disease mutations identified in exon 18 of von Willebrand factor gene. (PMID 15461624)