C449R (p.Cys449Arg) variant of NOTCH1 (P46531)
C449R (p.Cys449Arg) in NOTCH1 (P46531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Adams-Oliver syndrome 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
C449R (p.Cys449Arg) variant details
- p.Cys449Arg
- rs864622057
- ClinGen CA349327
- ClinVar RCV000205123
- Ensembl rs864622057
- Likely pathogenic
- Adams-Oliver syndrome 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.964
- MetaLR 1.00
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.94
- ClinVar: Likely pathogenic (Adams-Oliver syndrome 5)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Adams-Oliver Syndrome – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. (PMID 27077170)