D411Y (p.Asp411Tyr) variant of TGFBR2 (TGF-beta receptor type-2)
D411Y (p.Asp411Tyr) in TGFBR2 (TGF-beta receptor type-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Loeys-Dietz syndrome 2. The record also includes structural context.
D411Y (p.Asp411Tyr) variant details
- p.Asp411Tyr
- cosmic curated COSV55460
- Ensembl rs2125437038
- Likely pathogenic
- Loeys-Dietz syndrome 2
- Missense
- ClinVar: Likely pathogenic (Loeys-Dietz syndrome 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available