C82S (p.Cys82Ser) variant of NOTCH3 (Q9UM47)
C82S (p.Cys82Ser) in NOTCH3 (Q9UM47) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
C82S (p.Cys82Ser) variant details
- p.Cys82Ser
- TOPMed rs1023306013
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available