A117G (p.Ala117Gly) variant of TTR (Transthyretin)
A117G (p.Ala117Gly) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Carpal tunnel syndrome 1; Hyperthyroxinemia, dystransthyretinemic; Amyloidosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes published literature and structural context.
A117G (p.Ala117Gly) variant details
- p.Ala117Gly
- rs121918087
- ClinGen CA256841
- ClinVar RCV000014390
- UniProt VAR 007588
- Pathogenic
- Carpal tunnel syndrome 1; Hyperthyroxinemia, dystransthyretinemic; Amyloidosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- AlphaMissense 0.25
- MetaLR 0.94
- MetaSVM 1.06
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.47
- ClinVar: Pathogenic (Amyloidosis, hereditary systemic 1)
- EBI: Pathogenic (in AMYLD1)
- UniProt: Pathogenic (in AMYLD1)
- Structural context available
- Cited in: Usefulness of MALDI/TOF mass spectrometry of immunoprecipitated serum variant transthyretin in the diagnosis of… (PMID 10611950)
- Cited in: Genetic microheterogeneity of human transthyretin detected by IEF. (PMID 17503405)