E74K (p.Glu74Lys) variant of TTR (Transthyretin)
E74K (p.Glu74Lys) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cardiovascular phenotype; Amyloidosis, hereditary systemic 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
E74K (p.Glu74Lys) variant details
- p.Glu74Lys
- rs1555631393
- ClinGen CA402156924
- ClinVar RCV002249489
- ClinVar RCV002424785
- Pathogenic
- Cardiovascular phenotype; Amyloidosis, hereditary systemic 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- AlphaMissense 0.68
- MetaLR 0.94
- MetaSVM 1.06
- PolyPhen-2 0.99
- SIFT 0.02
- EVE 0.47
- ClinVar: Pathogenic (Cardiovascular phenotype; Amyloidosis, hereditary systemic 1)
- EBI: Pathogenic (in AMYLD1)
- UniProt: Pathogenic (in AMYLD1)
- Structural context available
- Cited in: A severe form of amyloidotic polyneuropathy in a Costa Rican family with a rare transthyretin mutation (Glu54Lys). (PMID 15214015)
- Cited in: Hereditary Transthyretin Amyloidosis. (PMID 20301373)