R23P (p.Arg23Pro) variant of NOTCH1 (P46531)
R23P (p.Arg23Pro) 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.
R23P (p.Arg23Pro) variant details
- p.Arg23Pro
- rs869025260
- ClinGen CA375579313
- ClinVar RCV002001927
- ClinVar RCV002370567
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; Adams-Oliver syndrome 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- CADD 24.10
- PolyPhen-2 0.61
- SIFT 0.03
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; Adams-O)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)
- Cited in: Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. (PMID 24882528)