N61S (p.Asn61Ser) variant of NOTCH1 (P46531)
N61S (p.Asn61Ser) in NOTCH1 (P46531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial thoracic aortic aneurysm and aortic dissection; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
N61S (p.Asn61Ser) variant details
- p.Asn61Ser
- rs1554730749
- ClinGen CA375573144
- ClinVar RCV002306361
- ClinVar RCV004047729
- Conflicting interpretations
- Familial thoracic aortic aneurysm and aortic dissection; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- CADD 11.20
- PolyPhen-2 0.01
- SIFT 0.24
- ClinVar: Conflicting classifications of pathogenicity (Familial thoracic aortic aneurysm and aortic dissection; not pro)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)