G2S (p.Gly2Ser) variant of TGFBR2 (TGF-beta receptor type-2)
G2S (p.Gly2Ser) 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 Loeys-Dietz syndrome 2; Familial thoracic aortic aneurysm and aortic dissection. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
G2S (p.Gly2Ser) variant details
- p.Gly2Ser
- rs565502802
- ClinGen CA351830462
- ClinVar RCV002856375
- ClinVar RCV004007633
- Uncertain significance
- Loeys-Dietz syndrome 2; Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.31
- CADD 25.20
- PolyPhen-2 0.10
- SIFT 0.19
- ClinVar: Uncertain significance (Loeys-Dietz syndrome 2; Familial thoracic aortic aneurysm and ao)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-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)