E82K (p.Glu82Lys) variant of LMNA (Prelamin-A/C)
E82K (p.Glu82Lys) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Cardiovascular phenotype; Charcot-Marie-Tooth disease type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
E82K (p.Glu82Lys) variant details
- p.Glu82Lys
- rs59270054
- ClinGen CA017794
- ClinVar RCV000057380
- ClinVar RCV000156060
- Pathogenic
- not provided; Cardiovascular phenotype; Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.983
- ESM-1b 1.00
- AlphaMissense 0.96
- ClinVar: Pathogenic (not provided; Cardiovascular phenotype; Charcot-Marie-Tooth dise)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: Cardiomyopathy, familial dilated. (PMID 16839424)