G357E (p.Gly357Glu) variant of TGFBR2 (TGF-beta receptor type-2)
G357E (p.Gly357Glu) in TGFBR2 (TGF-beta receptor type-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Loeys-Dietz syndrome 2. The record also includes structural context.
G357E (p.Gly357Glu) variant details
- p.Gly357Glu
- ESP rs370995723
- ExAC rs370995723
- TOPMed rs370995723
- gnomAD rs370995723
- Pathogenic
- not provided; Loeys-Dietz syndrome 2
- Missense
- ClinVar: Pathogenic (not provided; Loeys-Dietz syndrome 2)
- EBI: Pathogenic (in LDS2)
- UniProt: Pathogenic (in LDS2)
- Structural context available