R299Q (p.Arg299Gln) variant of TGFB2 (P61812)
R299Q (p.Arg299Gln) 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; Familial thoracic aortic aneurysm and aortic dissection; Thoracic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
R299Q (p.Arg299Gln) variant details
- p.Arg299Gln
- rs1057521150
- ClinGen CA16603488
- cosmic curated COSV65108
- ClinVar RCV000418728
- Pathogenic/Likely pathogenic
- not provided; Familial thoracic aortic aneurysm and aortic dissection; Thoracic
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- REVEL 0.57
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.03
- ClinVar: Pathogenic/Likely pathogenic (not provided; Familial thoracic aortic aneurysm and aortic disse)
- EBI: Pathogenic (in LDS4)
- UniProt: Pathogenic (in LDS4)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)