G8S (p.Gly8Ser) variant of TGFBR2 (TGF-beta receptor type-2)
G8S (p.Gly8Ser) in TGFBR2 (TGF-beta receptor type-2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Familial thoracic aortic aneurysm and aortic dissection; Loeys-Dietz syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
G8S (p.Gly8Ser) variant details
- p.Gly8Ser
- NCI-TCGA TCGA novel
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; Loeys-Dietz syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.30
- CADD 25.20
- PolyPhen-2 0.10
- SIFT 0.41
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; Loeys-D)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available