A56P (p.Ala56Pro) variant of TTR (Transthyretin)
A56P (p.Ala56Pro) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; Amyloidosis, hereditary systemic 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
A56P (p.Ala56Pro) variant details
- p.Ala56Pro
- rs121918077
- ClinGen CA256812
- ClinVar RCV000014374
- ClinVar RCV006659138
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Amyloidosis, hereditary systemic 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- AlphaMissense 0.54
- MetaLR 0.84
- MetaSVM 0.62
- PolyPhen-2 0.94
- SIFT 0.17
- MutPred 0.56
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Amyloidosis, hereditary systemic 1)
- EBI: Pathogenic (in AMYLD1)
- UniProt: Pathogenic (in AMYLD1)
- Structural context available
- Cited in: Genetic microheterogeneity of human transthyretin detected by IEF. (PMID 17503405)
- Cited in: Hereditary Transthyretin Amyloidosis. (PMID 20301373)