P55R (p.Pro55Arg) variant of NOTCH1 (P46531)
P55R (p.Pro55Arg) 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. The record also includes variant effect predictions, published literature, and structural context.
P55R (p.Pro55Arg) variant details
- p.Pro55Arg
- rs1286892980
- ClinGen CA375573185
- ClinVar RCV002395029
- gnomAD rs1286892980
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection
- Missense
- MetaLR 0.04
- MetaSVM -1.02
- PolyPhen-2 0.00
- SIFT 0.25
- MutPred 0.34
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection)
- EBI: Benign
- UniProt: Benign
- 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)