R1334W (p.Arg1334Trp) variant of VWF (von Willebrand factor)
R1334W (p.Arg1334Trp) 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 0.69 / 1. The record also includes population frequency data and structural context.
R1334W (p.Arg1334Trp) variant details
- p.Arg1334Trp
- rs746810319
- ClinGen CA6402628
- NCI-TCGA Cosmic COSV5461
- ClinVar RCV000759394
- Likely pathogenic
- von Willebrand disease type 2M
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- REVEL 0.75
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Likely pathogenic (von Willebrand disease type 2M)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available