L48R (p.Leu48Arg) variant of TGFB2 (P61812)
L48R (p.Leu48Arg) in TGFB2 (P61812) 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 record also includes published literature and structural context.
L48R (p.Leu48Arg) variant details
- p.Leu48Arg
- rs1553292088
- ClinGen CA344725383
- cosmic curated COSV10591
- ClinVar RCV000786410
- Uncertain significance
- not provided; Familial thoracic aortic aneurysm and aortic dissection; Loeys-Die
- Missense
- 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)