G13R (p.Gly13Arg) variant of TTR (Transthyretin)
G13R (p.Gly13Arg) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Amyloidosis, hereditary systemic 1; Carpal tunnel syndrome 1; Hyperthyroxinemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
G13R (p.Gly13Arg) variant details
- p.Gly13Arg
- rs767889884
- ClinGen CA8928380
- ClinVar RCV001928884
- ClinVar RCV002479444
- Uncertain significance
- Amyloidosis, hereditary systemic 1; Carpal tunnel syndrome 1; Hyperthyroxinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- REVEL 0.61
- MetaLR 0.90
- MetaSVM 0.99
- CADD 29.70
- PolyPhen-2 0.93
- SIFT 0.01
- ClinVar: Uncertain significance (Amyloidosis, hereditary systemic 1; Carpal tunnel syndrome 1; Hy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Hereditary Transthyretin Amyloidosis. (PMID 20301373)
- Cited in: Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial. (PMID 24368466)