E109D (p.Glu109Asp) variant of TTR (Transthyretin)
E109D (p.Glu109Asp) 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; Amyloidosis, hereditary systemic 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes published literature and structural context.
E109D (p.Glu109Asp) variant details
- p.Glu109Asp
- rs876661395
- ClinGen CA10581186
- NCI-TCGA Cosmic COSV5270
- cosmic curated COSV52701
- Likely pathogenic
- Cardiovascular phenotype; Amyloidosis, hereditary systemic 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- AlphaMissense 0.24
- MetaLR 0.74
- MetaSVM 0.29
- PolyPhen-2 0.88
- SIFT 0.10
- EVE 0.19
- ClinVar: Likely pathogenic (Cardiovascular phenotype; Amyloidosis, hereditary systemic 1)
- 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)