R5C (p.Arg5Cys) variant of TTR (Transthyretin)
R5C (p.Arg5Cys) 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; Cardiovascular phenotype; Hyperthyroxinemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R5C (p.Arg5Cys) variant details
- p.Arg5Cys
- rs144792001
- ClinGen CA8928376
- cosmic curated COSV52702
- ClinVar RCV001210254
- Uncertain significance
- Amyloidosis, hereditary systemic 1; Cardiovascular phenotype; Hyperthyroxinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.39
- MetaLR 0.75
- MetaSVM 0.03
- CADD 18.00
- PolyPhen-2 0.33
- SIFT 0.07
- ClinVar: Uncertain significance (Amyloidosis, hereditary systemic 1; Cardiovascular phenotype; 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)