C429R (p.Cys429Arg) variant of NOTCH1 (P46531)
C429R (p.Cys429Arg) in NOTCH1 (P46531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Adams-Oliver syndrome 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
C429R (p.Cys429Arg) variant details
- p.Cys429Arg
- rs587777736
- ClinGen CA211323
- ClinVar RCV000144235
- UniProt VAR 071960
- Pathogenic/Likely pathogenic
- Adams-Oliver syndrome 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.987
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.99
- ClinVar: Pathogenic/Likely pathogenic (Adams-Oliver syndrome 5)
- EBI: Pathogenic (in AOS5)
- UniProt: Pathogenic (in AOS5)
- Structural context available
- Cited in: Adams-Oliver syndrome and portal hypertension: fortuitous association or common mechanism? (PMID 22307742)
- Cited in: Mutations in NOTCH1 cause Adams-Oliver syndrome. (PMID 25132448)