R302S (p.Arg302Ser) variant of TGFB2 (P61812)
R302S (p.Arg302Ser) in TGFB2 (P61812) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Loeys-Dietz syndrome 4. The record also includes variant effect predictions, published literature, and structural context.
R302S (p.Arg302Ser) variant details
- p.Arg302Ser
- rs869312903
- ClinGen CA10581764
- ClinVar RCV001589185
- ClinVar RCV001824303
- Pathogenic/Likely pathogenic
- not provided; Loeys-Dietz syndrome 4
- Missense
- MutPred 0.55
- ClinVar: Pathogenic/Likely pathogenic (not provided; Loeys-Dietz syndrome 4)
- EBI: Pathogenic (in LDS4)
- UniProt: Pathogenic (in LDS4)
- Structural context available
- Cited in: Loeys-Dietz Syndrome. (PMID 20301312)