Y1146C (p.Tyr1146Cys) variant of VWF (von Willebrand factor)
Y1146C (p.Tyr1146Cys) 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 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
Y1146C (p.Tyr1146Cys) variant details
- p.Tyr1146Cys
- rs267607326
- ClinGen CA228408
- ClinVar RCV000024001
- ClinVar RCV000086656
- Pathogenic
- Von Willebrand disease type 2A
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- REVEL 0.87
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Von Willebrand disease type 2A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 8.1e-05)
- Structural context available
- Cited in: A cluster of mutations in the D3 domain of von Willebrand factor correlates with a distinct subgroup of von Willebrand… (PMID 20351307)
- Cited in: Von Willebrand Disease. (PMID 20301765)