Q66R (p.Gln66Arg) variant of VWF (von Willebrand factor)
Q66R (p.Gln66Arg) in VWF (von Willebrand factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
Q66R (p.Gln66Arg) variant details
- p.Gln66Arg
- ExAC rs765560613
- gnomAD rs765560613
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.12
- MetaLR 0.13
- MetaSVM -1.03
- CADD 19.20
- PolyPhen-2 0.14
- SIFT 0.17
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available