R377L (p.Arg377Leu) variant of LMNA (Prelamin-A/C)
R377L (p.Arg377Leu) 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 Cardiovascular phenotype; Charcot-Marie-Tooth disease type 2; Congenital muscula. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
R377L (p.Arg377Leu) variant details
- p.Arg377Leu
- rs61672878
- ClinGen CA016657
- ClinVar RCV000057236
- ClinVar RCV001237945
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Charcot-Marie-Tooth disease type 2; Congenital muscula
- Missense
- Variant Prioritization Score for Impact Estimate 0.914
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.85
- MetaLR 0.92
- MetaSVM 1.06
- CADD 32.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Charcot-Marie-Tooth disease type 2; Co)
- EBI: Pathogenic (in EDMD2)
- UniProt: Pathogenic (in EDMD2)
- Most common in the 1KG:ACB population (allele frequency 0.038)
- Structural context available
- Cited in: Identification of lamin A/C ( LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular… (PMID 12032588)
- Cited in: Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss… (PMID 12649505)