T5R (p.Thr5Arg) variant of ELN (Elastin)
T5R (p.Thr5Arg) 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 0.51 / 1. The record also includes structural context.
T5R (p.Thr5Arg) variant details
- p.Thr5Arg
- rs781784045
- ClinGen CA367868646
- ClinVar RCV003631736
- Uncertain significance
- Supravalvar aortic stenosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- AlphaMissense 0.38
- MetaLR 0.51
- MetaSVM -0.41
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.24
- ClinVar: Uncertain significance (Supravalvar aortic stenosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available