R41* (p.Arg41Ter) variant of TTR (Transthyretin)
R41* (p.Arg41Ter) in TTR (Transthyretin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
R41* (p.Arg41Ter) variant details
- p.Arg41Ter
- rs1004021945
- ClinGen CA402156639
- cosmic curated COSV99379
- ClinVar RCV001904139
- Likely benign
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.655
- CADD 33.00
- 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)