A63P (p.Ala63Pro) variant of NOTCH3 (Q9UM47)
A63P (p.Ala63Pro) in NOTCH3 (Q9UM47) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
A63P (p.Ala63Pro) variant details
- p.Ala63Pro
- Ensembl rs864621964
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available