E74S (p.Glu74Ser) variant of TTR (Transthyretin)
E74S (p.Glu74Ser) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cardiovascular phenotype; not provided; Amyloidosis, hereditary systemic 1. The record also includes variant effect predictions and structural context.
E74S (p.Glu74Ser) variant details
- p.Glu74Ser
- Ensembl rs730881168
- Likely pathogenic
- Cardiovascular phenotype; not provided; Amyloidosis, hereditary systemic 1
- Missense
- MetaLR 0.94
- MetaSVM 1.06
- SIFT 0.00
- ClinVar: Likely pathogenic (Cardiovascular phenotype; not provided; Amyloidosis, hereditary)
- EBI: Pathogenic (in AMYLD1)
- UniProt: Pathogenic (in AMYLD1)
- Structural context available