I70T (p.Ile70Thr) variant of TGFB2 (P61812)
I70T (p.Ile70Thr) in TGFB2 (P61812) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Loeys-Dietz syndrome 4; Familial thoracic aortic aneurysm and aortic dissection. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
I70T (p.Ile70Thr) variant details
- p.Ile70Thr
- rs1027195424
- ClinGen CA16610001
- ClinVar RCV001824320
- ClinVar RCV002418380
- Uncertain significance
- Loeys-Dietz syndrome 4; Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- REVEL 0.71
- CADD 25.80
- PolyPhen-2 0.23
- SIFT 0.00
- ClinVar: Uncertain significance (Loeys-Dietz syndrome 4; Familial thoracic aortic aneurysm and ao)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)
- Cited in: Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. (PMID 24882528)