C1190Y (p.Cys1190Tyr) variant of VWF (von Willebrand factor)
C1190Y (p.Cys1190Tyr) 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 2A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
C1190Y (p.Cys1190Tyr) variant details
- p.Cys1190Tyr
- rs1591865026
- ClinGen CA383510975
- ClinVar RCV000851644
- ClinVar RCV001003907
- Pathogenic
- Von Willebrand disease type 2A
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- REVEL 0.95
- AlphaMissense 0.91
- MetaLR 0.99
- MetaSVM 0.95
- CADD 24.90
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Von Willebrand disease type 2A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Von Willebrand Disease. (PMID 20301765)