T5M (p.Thr5Met) variant of ELN (Elastin)
T5M (p.Thr5Met) in ELN (Elastin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Familial thoracic aortic aneurysm and aortic dissection. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
T5M (p.Thr5Met) variant details
- p.Thr5Met
- cosmic curated COSV52709
- ExAC rs781784045
- TOPMed rs781784045
- gnomAD rs781784045
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.28
- AlphaMissense 0.38
- MetaLR 0.51
- MetaSVM -0.41
- CADD 24.80
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 7e-05)
- Structural context available