V1976D (p.Val1976Asp) variant of NOTCH1 (P46531)
V1976D (p.Val1976Asp) in NOTCH1 (P46531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Aortic valve disease 1. The record also includes variant effect predictions, published literature, and structural context.
V1976D (p.Val1976Asp) variant details
- p.Val1976Asp
- rs2133325416
- ClinGen CA375636260
- ClinVar RCV003486372
- Ensembl rs2133325416
- Likely pathogenic
- Aortic valve disease 1
- Missense
- MetaLR 0.36
- MetaSVM -0.29
- PolyPhen-2 1.00
- SIFT 0.02
- MutPred 0.42
- ClinVar: Likely pathogenic (Aortic valve disease 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Evaluation of the adolescent or adult with some features of Marfan syndrome. (PMID 22237449)
- Cited in: 2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic… (PMID 25173340)