A39V (p.Ala39Val) variant of NOTCH1 (P46531)
A39V (p.Ala39Val) in NOTCH1 (P46531) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Familial thoracic aortic aneurysm and aortic dissection. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
A39V (p.Ala39Val) variant details
- p.Ala39Val
- 1000Genomes rs747994799
- ExAC rs747994799
- gnomAD rs747994799
- Likely benign
- Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- CADD 13.10
- PolyPhen-2 0.00
- SIFT 0.84
- ClinVar: Likely benign (Familial thoracic aortic aneurysm and aortic dissection)
- UniProt: Likely benign
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available