Q66K (p.Gln66Lys) variant of VWF (von Willebrand factor)
Q66K (p.Gln66Lys) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
Q66K (p.Gln66Lys) variant details
- p.Gln66Lys
- TOPMed rs892950501
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.12
- MetaLR 0.13
- MetaSVM -1.00
- CADD 13.30
- PolyPhen-2 0.00
- SIFT 0.17
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available