K55E (p.Lys55Glu) variant of TTR (Transthyretin)
K55E (p.Lys55Glu) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Amyloidosis, hereditary systemic 1; Cardiovascular phenotype. The record also includes published literature and structural context.
K55E (p.Lys55Glu) variant details
- p.Lys55Glu
- rs2510932395
- ClinGen CA402156806
- ClinVar RCV002904760
- ClinVar RCV003358018
- Conflicting interpretations
- Amyloidosis, hereditary systemic 1; Cardiovascular phenotype
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Amyloidosis, hereditary systemic 1; Cardiovascular phenotype)
- EBI: Likely pathogenic (in AMYLD1)
- UniProt: Likely pathogenic (in AMYLD1)
- Structural context available
- Cited in: Hereditary Transthyretin Amyloidosis. (PMID 20301373)
- Cited in: Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial. (PMID 24368466)