D1517N (p.Asp1517Asn) variant of NOTCH1 (P46531)
D1517N (p.Asp1517Asn) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes structural context.
D1517N (p.Asp1517Asn) variant details
- p.Asp1517Asn
- rs1554727954
- ClinGen CA375646665
- ClinVar RCV000662252
- ClinVar RCV003223659
- Pathogenic/Likely pathogenic
- Adams-Oliver syndrome 5; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- MetaLR 0.76
- MetaSVM 0.76
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.85
- ClinVar: Pathogenic/Likely pathogenic (Adams-Oliver syndrome 5; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available