G24D (p.Gly24Asp) variant of TTR (Transthyretin)
G24D (p.Gly24Asp) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Amyloidosis, hereditary systemic 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
G24D (p.Gly24Asp) variant details
- p.Gly24Asp
- rs1449262220
- ClinGen CA402156428
- ClinVar RCV002370850
- ClinVar RCV003626745
- Uncertain significance
- Cardiovascular phenotype; Amyloidosis, hereditary systemic 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.46
- MetaLR 0.87
- MetaSVM 0.78
- CADD 17.00
- PolyPhen-2 0.07
- SIFT 0.27
- ClinVar: Uncertain significance (Cardiovascular phenotype; Amyloidosis, hereditary systemic 1)
- 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)