E109V (p.Glu109Val) variant of TTR (Transthyretin)
E109V (p.Glu109Val) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Amyloidosis, hereditary systemic 1; Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes published literature and structural context.
E109V (p.Glu109Val) variant details
- p.Glu109Val
- rs2073511444
- ClinGen CA402157144
- ClinVar RCV001049648
- ClinVar RCV001288935
- Pathogenic/Likely pathogenic
- Amyloidosis, hereditary systemic 1; Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- AlphaMissense 0.32
- MetaLR 0.91
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.49
- ClinVar: Pathogenic/Likely pathogenic (Amyloidosis, hereditary systemic 1; Cardiovascular phenotype; no)
- EBI: Pathogenic (in AMYLD1)
- UniProt: 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)