R41Q (p.Arg41Gln) variant of TTR (Transthyretin)
R41Q (p.Arg41Gln) 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; Amyloidosis, hereditary systemic 1; Carpal tunnel syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
R41Q (p.Arg41Gln) variant details
- p.Arg41Gln
- rs879254269
- ClinGen CA10584599
- NCI-TCGA Cosmic COSV5270
- cosmic curated COSV52701
- Uncertain significance
- not provided; Amyloidosis, hereditary systemic 1; Carpal tunnel syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.31
- MetaLR 0.70
- MetaSVM -0.22
- CADD 7.51
- PolyPhen-2 0.06
- SIFT 0.17
- ClinVar: Uncertain significance (not provided; Amyloidosis, hereditary systemic 1; Carpal tunnel)
- 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)