A117S (p.Ala117Ser) variant of TTR (Transthyretin)
A117S (p.Ala117Ser) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Carpal tunnel syndrome 1; Hyperthyroxinemia, dystransthyretinemic; Amyloidosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
A117S (p.Ala117Ser) variant details
- p.Ala117Ser
- rs267607161
- ClinGen CA256859
- ClinVar RCV000014410
- ClinVar RCV000223869
- Pathogenic/Likely pathogenic
- Carpal tunnel syndrome 1; Hyperthyroxinemia, dystransthyretinemic; Amyloidosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- REVEL 0.82
- MetaLR 0.93
- MetaSVM 1.04
- CADD 25.10
- PolyPhen-2 0.94
- SIFT 0.06
- ClinVar: Pathogenic/Likely pathogenic (Carpal tunnel syndrome 1; Hyperthyroxinemia, dystransthyretinemi)
- EBI: Pathogenic (in AMYLD1)
- UniProt: Pathogenic (in AMYLD1)
- Population evidence available
- Structural context available
- Cited in: Usefulness of MALDI/TOF mass spectrometry of immunoprecipitated serum variant transthyretin in the diagnosis of… (PMID 10611950)
- Cited in: Transthyretin Ala97Ser in Chinese-Taiwanese patients with familial amyloid polyneuropathy: genetic studies and… (PMID 18022643)