E203V (p.Glu203Val) variant of LMNA (Prelamin-A/C)
E203V (p.Glu203Val) 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 Primary familial dilated cardiomyopathy; 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.
E203V (p.Glu203Val) variant details
- p.Glu203Val
- rs28933092
- ClinGen CA018303
- ClinVar RCV000057429
- ClinVar RCV002513739
- Pathogenic/Likely pathogenic
- Primary familial dilated cardiomyopathy; Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.983
- ESM-1b 1.00
- AlphaMissense 0.96
- ClinVar: Pathogenic/Likely pathogenic (Primary familial dilated cardiomyopathy; Charcot-Marie-Tooth dis)
- EBI: Pathogenic (in CMD1A)
- UniProt: Pathogenic (in CMD1A)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)