R537S (p.Arg537Ser) variant of TGFBR2 (TGF-beta receptor type-2)
R537S (p.Arg537Ser) 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.
R537S (p.Arg537Ser) variant details
- p.Arg537Ser
- Ensembl rs104893809
- Pathogenic
- Loeys-Dietz syndrome 2
- Missense
- ClinVar: Pathogenic (Loeys-Dietz syndrome 2)
- EBI: Pathogenic (in LDS2)
- UniProt: Pathogenic (in LDS2)
- Structural context available