G45R (p.Gly45Arg) variant of ELN (Elastin)
G45R (p.Gly45Arg) 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 0.55 / 1. The record also includes structural context.
G45R (p.Gly45Arg) variant details
- p.Gly45Arg
- rs2131152526
- ClinGen CA367868896
- ClinVar RCV001758814
- Ensembl rs2131152526
- Uncertain significance
- Supravalvar aortic stenosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- AlphaMissense 0.20
- MetaLR 0.60
- MetaSVM 0.16
- PolyPhen-2 0.56
- SIFT 0.00
- MutPred 0.14
- ClinVar: Uncertain significance (Supravalvar aortic stenosis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available