P22L (p.Pro22Leu) variant of NOTCH1 (P46531)
P22L (p.Pro22Leu) 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 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
P22L (p.Pro22Leu) variant details
- p.Pro22Leu
- rs769046407
- ClinGen CA5342263
- ClinVar RCV002364561
- ClinVar RCV002463204
- Conflicting interpretations
- Adams-Oliver syndrome 5; not provided; Familial thoracic aortic aneurysm and aor
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- CADD 11.40
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Adams-Oliver syndrome 5; not provided; Familial thoracic aortic)
- EBI: Benign
- UniProt: 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)