R5G (p.Arg5Gly) variant of TTR (Transthyretin)
R5G (p.Arg5Gly) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Cardiovascular phenotype; Amyloidosis, hereditary systemic 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
R5G (p.Arg5Gly) variant details
- p.Arg5Gly
- rs144792001
- ClinGen CA10604660
- ClinVar RCV000381645
- ClinVar RCV001213836
- Uncertain significance
- not provided; Cardiovascular phenotype; Amyloidosis, hereditary systemic 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.32
- MetaLR 0.75
- MetaSVM -0.17
- CADD 12.30
- PolyPhen-2 0.03
- SIFT 0.27
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype; Amyloidosis, hereditary)
- 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)