G45A (p.Gly45Ala) variant of ELN (Elastin)
G45A (p.Gly45Ala) in ELN (Elastin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Supravalvar aortic stenosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
G45A (p.Gly45Ala) variant details
- p.Gly45Ala
- rs2484848694
- ClinGen CA367868912
- ClinVar RCV002938141
- Uncertain significance
- Supravalvar aortic stenosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.42
- CADD 30.00
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Uncertain significance (Supravalvar aortic stenosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available