I24T (p.Ile24Thr) variant of TGFBR2 (TGF-beta receptor type-2)
I24T (p.Ile24Thr) in TGFBR2 (TGF-beta receptor type-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Loeys-Dietz syndrome 2; Familial thoracic aortic aneurysm and aortic dissection. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
I24T (p.Ile24Thr) variant details
- p.Ile24Thr
- ExAC rs775405890
- gnomAD rs775405890
- Uncertain significance
- Loeys-Dietz syndrome 2; Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.37
- CADD 24.10
- PolyPhen-2 0.01
- SIFT 0.05
- ClinVar: Uncertain significance (Loeys-Dietz syndrome 2; Familial thoracic aortic aneurysm and ao)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available