I24F (p.Ile24Phe) variant of TGFBR2 (TGF-beta receptor type-2)
I24F (p.Ile24Phe) 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 not provided; Familial thoracic aortic aneurysm and aortic dissection. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes published literature and structural context.
I24F (p.Ile24Phe) variant details
- p.Ile24Phe
- rs1697934054
- ClinGen CA351830595
- ClinVar RCV001774684
- ClinVar RCV003772056
- Uncertain significance
- not provided; Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- AlphaMissense 0.07
- MetaLR 0.51
- MetaSVM -0.02
- PolyPhen-2 0.00
- SIFT 0.01
- MutPred 0.23
- ClinVar: Uncertain significance (not provided; Familial thoracic aortic aneurysm and aortic disse)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)