R302H (p.Arg302His) variant of TGFB2 (P61812)
R302H (p.Arg302His) in TGFB2 (P61812) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Loeys-Dietz syndrome 4; Familial thoracic aortic aneurysm and aort. The record also includes variant effect predictions, published literature, and structural context.
R302H (p.Arg302His) variant details
- p.Arg302His
- rs1553303213
- ClinGen CA344727314
- ClinVar RCV000509486
- ClinVar RCV001824325
- Pathogenic/Likely pathogenic
- not provided; Loeys-Dietz syndrome 4; Familial thoracic aortic aneurysm and aort
- Missense
- MutPred 0.51
- ClinVar: Pathogenic/Likely pathogenic (not provided; Loeys-Dietz syndrome 4; Familial thoracic aortic a)
- EBI: Pathogenic (in LDS4)
- UniProt: Pathogenic (in LDS4)
- 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)