R153K (p.Arg153Lys) variant of VWF (von Willebrand factor)
R153K (p.Arg153Lys) 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.
R153K (p.Arg153Lys) variant details
- p.Arg153Lys
- TOPMed rs928730817
- gnomAD rs928730817
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.11
- MetaLR 0.18
- MetaSVM -0.85
- CADD 22.50
- PolyPhen-2 0.97
- SIFT 1.00
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available