V72L (p.Val72Leu) variant of NOTCH3 (Q9UM47)
V72L (p.Val72Leu) in NOTCH3 (Q9UM47) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
V72L (p.Val72Leu) variant details
- p.Val72Leu
- TOPMed rs2046938247
- gnomAD rs2046938247
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available