A12V (p.Ala12Val) variant of NOTCH1 (P46531)
A12V (p.Ala12Val) in NOTCH1 (P46531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Adams-Oliver syndrome 5; not provided; Aortic valve disease 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A12V (p.Ala12Val) variant details
- p.Ala12Val
- rs1473062369
- ClinGen CA375579834
- ClinVar RCV001765924
- ClinVar RCV001868647
- Uncertain significance
- Adams-Oliver syndrome 5; not provided; Aortic valve disease 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- CADD 19.10
- PolyPhen-2 0.00
- SIFT 0.67
- ClinVar: Uncertain significance (Adams-Oliver syndrome 5; not provided; Aortic valve disease 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.2e-05)
- 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)