R528L (p.Arg528Leu) variant of TGFBR2 (TGF-beta receptor type-2)
R528L (p.Arg528Leu) in TGFBR2 (TGF-beta receptor type-2) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of Loeys-Dietz syndrome 2. The record also includes structural context.
R528L (p.Arg528Leu) variant details
- p.Arg528Leu
- NCI-TCGA Cosmic COSV5544
- NCI-TCGA Cosmic COSV5545
- cosmic curated COSV55450
- Pathogenic
- Loeys-Dietz syndrome 2
- Missense
- ClinVar: Pathogenic (Loeys-Dietz syndrome 2)
- UniProt: Pathogenic (in LDS2)
- Structural context available