R68C (p.Arg68Cys) variant of VWF (von Willebrand factor)
R68C (p.Arg68Cys) in VWF (von Willebrand factor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
R68C (p.Arg68Cys) variant details
- p.Arg68Cys
- rs757353387
- ClinGen CA6403874
- NCI-TCGA Cosmic COSV5461
- ClinVar RCV003988558
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.43
- MetaLR 0.41
- MetaSVM -0.46
- CADD 26.20
- PolyPhen-2 0.54
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00039)
- Structural context available