R27H (p.Arg27His) variant of VWF (von Willebrand factor)
R27H (p.Arg27His) in VWF (von Willebrand factor) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
R27H (p.Arg27His) variant details
- p.Arg27His
- ExAC rs773817619
- TOPMed rs773817619
- gnomAD rs773817619
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0674
- REVEL 0.03
- MetaLR 0.04
- MetaSVM -1.06
- CADD 0.04
- PolyPhen-2 0.00
- SIFT 0.13
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available