P60T (p.Pro60Thr) variant of NOTCH1 (P46531)
P60T (p.Pro60Thr) 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
P60T (p.Pro60Thr) variant details
- p.Pro60Thr
- rs755775484
- ClinGen CA5342234
- ClinVar RCV003587488
- ClinVar RCV004636776
- Conflicting interpretations
- Adams-Oliver syndrome 5; Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- CADD 11.50
- PolyPhen-2 0.11
- SIFT 0.33
- ClinVar: Conflicting classifications of pathogenicity (Adams-Oliver syndrome 5; Familial thoracic aortic aneurysm and a)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.00012)
- 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)