M1T (p.Met1Thr) variant of ELN (Elastin)
M1T (p.Met1Thr) in ELN (Elastin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Supravalvar aortic stenosis. The record also includes variant effect predictions, population frequency data, and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs863223518
- ClinGen CA319968
- ClinVar RCV000195606
- ClinVar RCV000627831
- Pathogenic/Likely pathogenic
- not provided; Supravalvar aortic stenosis
- Missense
- MetaLR 0.55
- MetaSVM 0.16
- PolyPhen-2 0.96
- SIFT 0.00
- MutPred 0.57
- ClinVar: Pathogenic/Likely pathogenic (not provided; Supravalvar aortic stenosis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available