E358G (p.Glu358Gly) variant of LMNA (Prelamin-A/C)
E358G (p.Glu358Gly) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Arrhythmogenic right ventricular dysplasia 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
E358G (p.Glu358Gly) variant details
- p.Glu358Gly
- rs1114167345
- ClinGen CA342820319
- ClinVar RCV000491922
- Ensembl rs1114167345
- Likely pathogenic
- Arrhythmogenic right ventricular dysplasia 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.92
- ESM-1b 1.00
- AlphaMissense 0.92
- MetaLR 0.92
- MetaSVM 1.07
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Arrhythmogenic right ventricular dysplasia 9)
- EBI: Likely pathogenic (in EDMD2 and MDCL)
- UniProt: Likely pathogenic (in EDMD2 and MDCL)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)