R20L (p.Arg20Leu) variant of NOTCH1 (P46531)
R20L (p.Arg20Leu) in NOTCH1 (P46531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial thoracic aortic aneurysm and aortic dissection; Adams-Oliver syndrome 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
R20L (p.Arg20Leu) variant details
- p.Arg20Leu
- rs1554733799
- ClinGen CA375579751
- ClinVar RCV001855279
- ClinVar RCV002270877
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; Adams-Oliver syndrome 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- CADD 23.20
- PolyPhen-2 0.04
- SIFT 0.39
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; Adams-O)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)