E109K (p.Glu109Lys) variant of TTR (Transthyretin)
E109K (p.Glu109Lys) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; not provided; Amyloidosis, hereditary systemic 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
E109K (p.Glu109Lys) variant details
- p.Glu109Lys
- rs121918082
- ClinGen CA402157140
- ClinVar RCV001386305
- ClinVar RCV001530146
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; not provided; Amyloidosis, hereditary systemic 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- REVEL 0.77
- AlphaMissense 0.27
- MetaLR 0.93
- MetaSVM 1.02
- CADD 25.50
- PolyPhen-2 0.98
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; not provided; Amyloidosis, hereditary)
- EBI: Pathogenic (in AMYLD1)
- UniProt: Pathogenic (in AMYLD1)
- Population evidence available
- Structural context available
- Cited in: A novel variant of transthyretin (Glu89Lys) associated with familial amyloidotic polyneuropathy. (PMID 10842705)
- Cited in: Hereditary Transthyretin Amyloidosis. (PMID 20301373)