E203K (p.Glu203Lys) variant of LMNA (Prelamin-A/C)
E203K (p.Glu203Lys) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Charcot-Marie-Tooth disease type 2; Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
E203K (p.Glu203Lys) variant details
- p.Glu203Lys
- rs61195471
- ClinGen CA018291
- ClinVar RCV000055999
- ClinVar RCV000057427
- Pathogenic/Likely pathogenic
- Charcot-Marie-Tooth disease type 2; Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.984
- ESM-1b 1.00
- AlphaMissense 0.97
- ClinVar: Pathogenic/Likely pathogenic (Charcot-Marie-Tooth disease type 2; Cardiovascular phenotype; no)
- EBI: Pathogenic (in CMD1A)
- UniProt: Pathogenic (in CMD1A)
- Structural context available
- Cited in: Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease. (PMID 11561226)
- Cited in: Sumoylation regulates lamin A function and is lost in lamin A mutants associated with familial cardiomyopathies. (PMID 18606848)