A12S (p.Ala12Ser) variant of TTR (Transthyretin)
A12S (p.Ala12Ser) 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 0.73 / 1. The record also includes published literature and structural context.
A12S (p.Ala12Ser) variant details
- p.Ala12Ser
- rs1567945391
- ClinGen CA402156304
- ClinVar RCV000703248
- ClinVar RCV002458294
- Uncertain significance
- Cardiovascular phenotype; Amyloidosis, hereditary systemic 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- AlphaMissense 0.15
- MetaLR 0.93
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.48
- ClinVar: Uncertain significance (Cardiovascular phenotype; Amyloidosis, hereditary systemic 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Hereditary Transthyretin Amyloidosis. (PMID 20301373)
- Cited in: Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial. (PMID 24368466)