A18T (p.Ala18Thr) variant of NOTCH1 (P46531)
A18T (p.Ala18Thr) in NOTCH1 (P46531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Adams-Oliver syndrome 5; Aortic valve disease 1; not provided. 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.
A18T (p.Ala18Thr) variant details
- p.Ala18Thr
- rs754613772
- ClinGen CA5342272
- ClinVar RCV001648232
- ClinVar RCV002072991
- Benign
- Adams-Oliver syndrome 5; Aortic valve disease 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- CADD 21.60
- PolyPhen-2 0.08
- SIFT 0.46
- ClinVar: Benign (Adams-Oliver syndrome 5; Aortic valve disease 1; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:SINDHI population (allele frequency 0.023)
- Structural context available
- Cited in: Evaluation of the adolescent or adult with some features of Marfan syndrome. (PMID 22237449)
- Cited in: 2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic… (PMID 25173340)