C1190F (p.Cys1190Phe) variant of VWF (von Willebrand factor)
C1190F (p.Cys1190Phe) in VWF (von Willebrand factor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Von Willebrand disease type 2A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
C1190F (p.Cys1190Phe) variant details
- p.Cys1190Phe
- rs1591865026
- ClinGen CA383510973
- ClinVar RCV003313897
- ClinVar RCV005859366
- Likely pathogenic
- Von Willebrand disease type 2A
- Missense
- Variant Prioritization Score for Impact Estimate 0.913
- AlphaMissense 0.91
- MetaLR 0.99
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Likely pathogenic (Von Willebrand disease type 2A)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Von Willebrand Disease. (PMID 20301765)