G72V (p.Gly72Val) variant of ELN (Elastin)
G72V (p.Gly72Val) 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 0.47 / 1. The record also includes structural context.
G72V (p.Gly72Val) variant details
- p.Gly72Val
- rs782513843
- ClinGen CA367869103
- ClinVar RCV003631667
- Uncertain significance
- Supravalvar aortic stenosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- AlphaMissense 0.12
- MetaLR 0.46
- MetaSVM -0.57
- PolyPhen-2 1.00
- SIFT 0.12
- MutPred 0.19
- ClinVar: Uncertain significance (Supravalvar aortic stenosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available