E203G (p.Glu203Gly) variant of LMNA (Prelamin-A/C)
E203G (p.Glu203Gly) 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; not provided; Primary dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
E203G (p.Glu203Gly) variant details
- p.Glu203Gly
- rs28933092
- ClinGen CA018298
- ClinVar RCV000015573
- ClinVar RCV000057428
- Pathogenic/Likely pathogenic
- Charcot-Marie-Tooth disease type 2; not provided; Primary dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.969
- ESM-1b 1.00
- AlphaMissense 0.93
- ClinVar: Pathogenic/Likely pathogenic (Charcot-Marie-Tooth disease type 2; not provided; Primary dilate)
- EBI: Pathogenic (in CMD1A)
- UniProt: Pathogenic (in CMD1A)
- Structural context available
- Cited in: Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system… (PMID 10580070)
- Cited in: Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial… (PMID 11792809)