R3W (p.Arg3Trp) variant of TGFBR2 (TGF-beta receptor type-2)
R3W (p.Arg3Trp) 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; Loeys-Die. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
R3W (p.Arg3Trp) variant details
- p.Arg3Trp
- rs2470443423
- ClinGen CA351830468
- ClinVar RCV003140548
- ClinVar RCV005622219
- Uncertain significance
- not provided; Familial thoracic aortic aneurysm and aortic dissection; Loeys-Die
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.44
- CADD 25.60
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Familial thoracic aortic aneurysm and aortic disse)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-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)