E109Q (p.Glu109Gln) variant of TTR (Transthyretin)
E109Q (p.Glu109Gln) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.67 / 1. The record also includes published literature and structural context.
E109Q (p.Glu109Gln) variant details
- p.Glu109Gln
- rs121918082
- ClinGen CA256829
- ClinVar RCV000014384
- ClinVar RCV000236028
- Pathogenic
- Cardiovascular phenotype; not provided; Amyloidosis, hereditary systemic 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- AlphaMissense 0.27
- MetaLR 0.93
- MetaSVM 1.02
- PolyPhen-2 0.98
- SIFT 0.04
- EVE 0.23
- ClinVar: Pathogenic (Cardiovascular phenotype; not provided; Amyloidosis, hereditary)
- EBI: Pathogenic (in AMYLD1)
- UniProt: Pathogenic (in AMYLD1)
- Structural context available
- Cited in: Two transthyretin variants (TTR Ala-49 and TTR Gln-89) in two Sicilian kindreds with hereditary amyloidosis. (PMID 1301926)
- Cited in: Transthyretin gene analysis in European patients with suspected familial amyloid polyneuropathy. (PMID 7655883)