T43M (p.Thr43Met) variant of NOTCH1 (P46531)
T43M (p.Thr43Met) 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; not provided; Familial thoracic aortic aneurysm and aor. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
T43M (p.Thr43Met) variant details
- p.Thr43Met
- rs371103280
- ClinGen CA5342252
- ClinVar RCV000519931
- ClinVar RCV002384008
- Conflicting interpretations
- Adams-Oliver syndrome 5; not provided; Familial thoracic aortic aneurysm and aor
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- CADD 29.70
- PolyPhen-2 0.71
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Adams-Oliver syndrome 5; not provided; Familial thoracic aortic)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00024)
- 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)