K55N (p.Lys55Asn) variant of TTR (Transthyretin)
K55N (p.Lys55Asn) in TTR (Transthyretin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Amyloidosis, hereditary systemic 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
K55N (p.Lys55Asn) variant details
- p.Lys55Asn
- rs1567945684
- ClinGen CA402156814
- ClinVar RCV000699004
- ClinVar RCV000714132
- Pathogenic
- not provided; Amyloidosis, hereditary systemic 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.43
- MetaLR 0.79
- MetaSVM 0.65
- CADD 21.70
- PolyPhen-2 0.53
- SIFT 0.04
- ClinVar: Pathogenic (Amyloidosis, hereditary systemic 1)
- EBI: Pathogenic (in AMYLD1)
- UniProt: Pathogenic (in AMYLD1)
- Population evidence available
- Structural context available
- Cited in: Transthyretin gene analysis in European patients with suspected familial amyloid polyneuropathy. (PMID 7655883)
- Cited in: Hereditary Transthyretin Amyloidosis. (PMID 20301373)