E62K (p.Glu62Lys) variant of TTR (Transthyretin)
E62K (p.Glu62Lys) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
E62K (p.Glu62Lys) variant details
- p.Glu62Lys
- rs2510932411
- ClinGen CA402156856
- ClinVar RCV002475296
- ClinVar RCV002574707
- Uncertain significance
- Amyloidosis, hereditary systemic 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.53
- MetaLR 0.73
- MetaSVM 0.12
- CADD 21.50
- PolyPhen-2 0.11
- SIFT 0.27
- ClinVar: Uncertain significance (Amyloidosis, hereditary systemic 1; not provided)
- EBI: Variant of uncertain significance (in AMYLD1)
- UniProt: Uncertain significance (in AMYLD1)
- 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)