L150Q (p.Leu150Gln) variant of VWF (von Willebrand factor)
L150Q (p.Leu150Gln) in VWF (von Willebrand factor) is a missense change. The available record places it in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes structural context.
L150Q (p.Leu150Gln) variant details
- p.Leu150Gln
- rs61753994
- ClinGen CA228601
- ClinVar RCV000086767
- gnomAD rs61753994
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- MutPred 0.71
- ClinVar: not provided (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available