W1745C (p.Trp1745Cys) variant of VWF (von Willebrand factor)
W1745C (p.Trp1745Cys) 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 2M. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
W1745C (p.Trp1745Cys) variant details
- p.Trp1745Cys
- rs267607352
- ClinGen CA228706
- ClinVar RCV000086831
- ClinVar RCV002271338
- Likely pathogenic
- von Willebrand disease type 2M
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- REVEL 0.76
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (von Willebrand disease type 2M)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Characterization of W1745C and S1783A: 2 novel mutations causing defective collagen binding in the A3 domain of von… (PMID 19687512)
- Cited in: Von Willebrand Disease. (PMID 20301765)