E81K (p.Glu81Lys) variant of TTR (Transthyretin)
E81K (p.Glu81Lys) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cardiovascular phenotype; Amyloidosis, hereditary systemic 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
E81K (p.Glu81Lys) variant details
- p.Glu81Lys
- rs121918086
- ClinGen CA256839
- ClinVar RCV000014389
- ClinVar RCV002453259
- Likely pathogenic
- Cardiovascular phenotype; Amyloidosis, hereditary systemic 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.55
- MetaLR 0.70
- MetaSVM -0.05
- CADD 13.20
- PolyPhen-2 0.02
- SIFT 0.57
- ClinVar: Likely pathogenic (Cardiovascular phenotype; Amyloidosis, hereditary systemic 1)
- EBI: Pathogenic (in AMYLD1)
- UniProt: Pathogenic (in AMYLD1)
- Population evidence available
- Structural context available
- Cited in: A basic transthyretin variant (Glu61-->Lys) causes familial amyloidotic polyneuropathy: protein and DNA sequencing and… (PMID 8352764)
- Cited in: Hereditary Transthyretin Amyloidosis. (PMID 20301373)