G28S (p.Gly28Ser) variant of NOTCH1 (P46531)
G28S (p.Gly28Ser) in NOTCH1 (P46531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of NOTCH1-related disorder; Familial thoracic aortic aneurysm and aortic dissection. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
G28S (p.Gly28Ser) variant details
- p.Gly28Ser
- rs1388609508
- ClinGen CA375579239
- ClinVar RCV002430338
- ClinVar RCV004529136
- Conflicting interpretations
- NOTCH1-related disorder; Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.12
- CADD 5.91
- PolyPhen-2 0.00
- SIFT 0.86
- ClinVar: Conflicting classifications of pathogenicity (NOTCH1-related disorder; Familial thoracic aortic aneurysm and a)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-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)