C498R (p.Cys498Arg) variant of NOTCH2 (Q04721)
C498R (p.Cys498Arg) in NOTCH2 (Q04721) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Alagille syndrome due to a NOTCH2 point mutation. The record also includes published literature and structural context.
C498R (p.Cys498Arg) variant details
- p.Cys498Arg
- rs2526300230
- ClinGen CA341876700
- ClinVar RCV003333374
- Likely pathogenic
- Alagille syndrome due to a NOTCH2 point mutation
- Missense
- ClinVar: Likely pathogenic (Alagille syndrome due to a NOTCH2 point mutation)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Alagille Syndrome. (PMID 20301450)