C849F (p.Cys849Phe) variant of VWF (von Willebrand factor)
C849F (p.Cys849Phe) 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 Hereditary von Willebrand disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
C849F (p.Cys849Phe) variant details
- p.Cys849Phe
- ExAC rs772796741
- gnomAD rs772796741
- Likely pathogenic
- Hereditary von Willebrand disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.697
- REVEL 0.58
- CADD 34.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Hereditary von Willebrand disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the HGDP:KALASH population (allele frequency 0.024)
- Structural context available