A6V (p.Ala6Val) variant of NOTCH1 (P46531)
A6V (p.Ala6Val) in NOTCH1 (P46531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified; not provided; Familial thoracic aortic aneurysm and aortic dissec. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
A6V (p.Ala6Val) variant details
- p.Ala6Val
- rs878855023
- ClinGen CA10582650
- ClinVar RCV000230821
- ClinVar RCV000769619
- Likely benign
- not specified; not provided; Familial thoracic aortic aneurysm and aortic dissec
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.68
- ClinVar: Likely benign (not specified; not provided; Familial thoracic aortic aneurysm a)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:HAN population (allele frequency 0.016)
- 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)