H108R (p.His108Arg) variant of TTR (Transthyretin)
H108R (p.His108Arg) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Amyloidosis, hereditary systemic 1; Familial amyloid neuropathy; Cardiovascular. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
H108R (p.His108Arg) variant details
- p.His108Arg
- rs2073511411
- ClinGen CA402157137
- ClinVar RCV001058837
- ClinVar RCV002445306
- Pathogenic
- Amyloidosis, hereditary systemic 1; Familial amyloid neuropathy; Cardiovascular
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- AlphaMissense 0.83
- MetaLR 0.93
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- ClinVar: Pathogenic (Amyloidosis, hereditary systemic 1; Familial amyloid neuropathy;)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Hereditary Transthyretin Amyloidosis. (PMID 20301373)
- Cited in: Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial. (PMID 24368466)