G420V (p.Gly420Val) variant of TGFBR2 (TGF-beta receptor type-2)
G420V (p.Gly420Val) in TGFBR2 (TGF-beta receptor type-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic 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 0.74 / 1. The record also includes published literature and structural context.
G420V (p.Gly420Val) variant details
- p.Gly420Val
- rs1553630426
- ClinGen CA351808880
- cosmic curated COSV10515
- ClinVar RCV000550146
- Likely pathogenic
- Familial thoracic aortic aneurysm and aortic dissection; Loeys-Dietz syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- AlphaMissense 1.00
- MetaLR 0.71
- MetaSVM 0.59
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.62
- ClinVar: Likely pathogenic (Familial thoracic aortic aneurysm and aortic dissection; Loeys-D)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)