R5H (p.Arg5His) variant of TTR (Transthyretin)
R5H (p.Arg5His) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Amyloidosis, hereditary systemic 1; Hyperthyroxinemia, dystransthyretinemic; Car. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
R5H (p.Arg5His) variant details
- p.Arg5His
- rs138657343
- ClinGen CA297526
- cosmic curated COSV99379
- ClinVar RCV000159430
- Conflicting interpretations
- Amyloidosis, hereditary systemic 1; Hyperthyroxinemia, dystransthyretinemic; Car
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.27
- MetaLR 0.70
- MetaSVM -0.23
- CADD 0.64
- PolyPhen-2 0.00
- SIFT 0.37
- ClinVar: Conflicting classifications of pathogenicity (Amyloidosis, hereditary systemic 1; Hyperthyroxinemia, dystranst)
- EBI: Likely benign
- UniProt: Likely benign
- 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)