C1374R (p.Cys1374Arg) variant of NOTCH1 (P46531)
C1374R (p.Cys1374Arg) 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 0.97 / 1. The record also includes published literature and structural context.
C1374R (p.Cys1374Arg) variant details
- p.Cys1374Arg
- rs864622060
- ClinGen CA349407
- ClinVar RCV000205222
- Ensembl rs864622060
- Likely pathogenic
- Adams-Oliver syndrome 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.973
- MetaLR 0.98
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.86
- ClinVar: Likely pathogenic (Adams-Oliver syndrome 5)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies. (PMID 25963545)
- Cited in: Adams-Oliver Syndrome – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. (PMID 27077170)