R27C (p.Arg27Cys) variant of VWF (von Willebrand factor)
R27C (p.Arg27Cys) in VWF (von Willebrand factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
R27C (p.Arg27Cys) variant details
- p.Arg27Cys
- TOPMed rs1373999500
- gnomAD rs1373999500
- Missense
- Variant Prioritization Score for Impact Estimate 0.112
- REVEL 0.01
- MetaLR 0.05
- MetaSVM -1.01
- CADD 13.30
- PolyPhen-2 0.17
- SIFT 0.05
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available