C2237R (p.Cys2237Arg) variant of VWF (von Willebrand factor)
C2237R (p.Cys2237Arg) in VWF (von Willebrand factor) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of von Willebrand disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
C2237R (p.Cys2237Arg) variant details
- p.Cys2237Arg
- ExAC rs770625592
- gnomAD rs770625592
- Likely pathogenic
- von Willebrand disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- REVEL 0.96
- MetaLR 0.95
- MetaSVM 1.10
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (von Willebrand disorder)
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 7e-05)
- Structural context available