A2E (p.Ala2Glu) variant of ELN (Elastin)
A2E (p.Ala2Glu) in ELN (Elastin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Supravalvar aortic stenosis; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
A2E (p.Ala2Glu) variant details
- p.Ala2Glu
- ExAC rs782766792
- TOPMed rs782766792
- gnomAD rs782766792
- Conflicting interpretations
- Supravalvar aortic stenosis; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.36
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Supravalvar aortic stenosis; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00029)
- Structural context available