R433S (p.Arg433Ser) variant of TGFBR2 (TGF-beta receptor type-2)
R433S (p.Arg433Ser) 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 Loeys-Dietz syndrome 2. The record also includes structural context.
R433S (p.Arg433Ser) variant details
- p.Arg433Ser
- Ensembl rs2125438944
- Pathogenic
- Loeys-Dietz syndrome 2
- Missense
- ClinVar: Pathogenic (Loeys-Dietz syndrome 2)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available