P27T (p.Pro27Thr) variant of NOTCH1 (P46531)
P27T (p.Pro27Thr) 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 specified; Familial thoracic aortic aneurysm and ao. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
P27T (p.Pro27Thr) variant details
- p.Pro27Thr
- rs769784635
- ClinGen CA5342260
- ClinVar RCV000462159
- ClinVar RCV002418394
- Conflicting interpretations
- Adams-Oliver syndrome 5; not specified; Familial thoracic aortic aneurysm and ao
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 0.35
- ClinVar: Conflicting classifications of pathogenicity (Adams-Oliver syndrome 5; not specified; Familial thoracic aortic)
- EBI: Benign
- UniProt: Benign
- Most common in the Middle Eastern population (allele frequency 0.00023)
- 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)