G50R (p.Gly50Arg) variant of NOTCH1 (P46531)
G50R (p.Gly50Arg) 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 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
G50R (p.Gly50Arg) variant details
- p.Gly50Arg
- rs776758626
- ExAC rs776758626
- TOPMed rs776758626
- gnomAD rs776758626
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; Adams-Oliver syndrome 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- CADD 16.60
- PolyPhen-2 0.32
- SIFT 0.38
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; Adams-O)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.7e-05)
- 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)