R448Q (p.Arg448Gln) variant of NOTCH1 (P46531)
R448Q (p.Arg448Gln) in NOTCH1 (P46531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Adams-Oliver syndrome 5. The record also includes variant effect predictions, published literature, and structural context.
R448Q (p.Arg448Gln) variant details
- p.Arg448Gln
- rs864622056
- ClinGen CA348264
- ClinVar RCV000203986
- Ensembl rs864622056
- Pathogenic
- Adams-Oliver syndrome 5
- Missense
- MetaLR 0.81
- MetaSVM 0.64
- PolyPhen-2 0.98
- SIFT 0.01
- MutPred 0.55
- ClinVar: Pathogenic (Adams-Oliver syndrome 5)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Adams-Oliver Syndrome – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. (PMID 27077170)