D446Y (p.Asp446Tyr) variant of TGFBR2 (TGF-beta receptor type-2)
D446Y (p.Asp446Tyr) in TGFBR2 (TGF-beta receptor type-2) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Loeys-Dietz syndrome 2. The record also includes structural context.
D446Y (p.Asp446Tyr) variant details
- p.Asp446Tyr
- NCI-TCGA Cosmic COSV5544
- NCI-TCGA Cosmic COSV5545
- cosmic curated COSV55457
- Likely pathogenic
- Loeys-Dietz syndrome 2
- Missense
- ClinVar: Likely pathogenic (Loeys-Dietz syndrome 2)
- UniProt: Likely pathogenic (in LDS2)
- Structural context available