Y119H (p.Tyr119His) variant of VWF (von Willebrand factor)
Y119H (p.Tyr119His) in VWF (von Willebrand factor) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes structural context.
Y119H (p.Tyr119His) variant details
- p.Tyr119His
- NCI-TCGA Cosmic COSV5463
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Structural context available