E431K (p.Glu431Lys) variant of TGFBR2 (TGF-beta receptor type-2)
E431K (p.Glu431Lys) 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.
E431K (p.Glu431Lys) variant details
- p.Glu431Lys
- cosmic curated COSV55443
- Ensembl rs2125438892
- Pathogenic
- Loeys-Dietz syndrome 2
- Missense
- ClinVar: Pathogenic (Loeys-Dietz syndrome 2)
- UniProt: Pathogenic
- Structural context available