G59V (p.Gly59Val) variant of ELN (Elastin)
G59V (p.Gly59Val) 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 0.59 / 1. The record also includes population frequency data and structural context.
G59V (p.Gly59Val) variant details
- p.Gly59Val
- rs782141308
- ClinGen CA4292353
- ClinVar RCV003517765
- ExAC rs782141308
- Uncertain significance
- Supravalvar aortic stenosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- AlphaMissense 0.22
- MetaLR 0.63
- MetaSVM 0.24
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.21
- ClinVar: Uncertain significance (Supravalvar aortic stenosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available