G2C (p.Gly2Cys) variant of TGFBR2 (TGF-beta receptor type-2)
G2C (p.Gly2Cys) in TGFBR2 (TGF-beta receptor type-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Familial thoracic aortic aneurysm and aortic dissection; not speci. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
G2C (p.Gly2Cys) variant details
- p.Gly2Cys
- rs565502802
- ClinGen CA049102
- ClinVar RCV000234528
- ClinVar RCV001526891
- Conflicting interpretations
- not provided; Familial thoracic aortic aneurysm and aortic dissection; not speci
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- REVEL 0.46
- CADD 31.00
- PolyPhen-2 0.67
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not provided; Familial thoracic aortic aneurysm and aortic disse)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:MSL population (allele frequency 0.019)
- 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)