K29E (p.Lys29Glu) variant of TTR (Transthyretin)
K29E (p.Lys29Glu) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Amyloidosis, hereditary systemic 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes published literature and structural context.
K29E (p.Lys29Glu) variant details
- p.Lys29Glu
- rs1323375123
- ClinGen CA402156485
- ClinVar RCV002021812
- gnomAD rs1323375123
- Uncertain significance
- Amyloidosis, hereditary systemic 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- AlphaMissense 0.12
- MetaLR 0.83
- MetaSVM 0.69
- PolyPhen-2 0.20
- SIFT 0.01
- MutPred 0.42
- ClinVar: Uncertain significance (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)