R56Q (p.Arg56Gln) variant of NOTCH1 (P46531)
R56Q (p.Arg56Gln) in NOTCH1 (P46531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Adams-Oliver syndrome 5; Familial thoracic aortic aneurysm and aortic dissection. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R56Q (p.Arg56Gln) variant details
- p.Arg56Gln
- rs1286309175
- ClinGen CA375573180
- ClinVar RCV003748514
- ClinVar RCV005387211
- Conflicting interpretations
- Adams-Oliver syndrome 5; Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- CADD 17.80
- PolyPhen-2 0.00
- SIFT 0.29
- ClinVar: Conflicting classifications of pathogenicity (Adams-Oliver syndrome 5; Familial thoracic aortic aneurysm and a)
- EBI: Benign
- UniProt: Benign
- Most common in the East Asian 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)