R54K (p.Arg54Lys) variant of TTR (Transthyretin)
R54K (p.Arg54Lys) in TTR (Transthyretin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in AMYLD1. The record also includes structural context.
R54K (p.Arg54Lys) variant details
- p.Arg54Lys
- Ensembl rs1598844187
- Pathogenic
- in AMYLD1
- Missense
- EBI: Pathogenic (in AMYLD1)
- UniProt: Pathogenic (in AMYLD1)
- Structural context available