G21A (p.Gly21Ala) variant of TTR (Transthyretin)
G21A (p.Gly21Ala) 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; Cardiomyopathy; Amyloidosis, hereditary systemic 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
G21A (p.Gly21Ala) variant details
- p.Gly21Ala
- rs1469623969
- ClinGen CA402156361
- ClinVar RCV000542108
- ClinVar RCV003150270
- Uncertain significance
- Cardiovascular phenotype; Cardiomyopathy; Amyloidosis, hereditary systemic 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.09
- MetaLR 0.54
- MetaSVM -0.52
- CADD 8.53
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Cardiomyopathy; Amyloidosis, hereditar)
- 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)