R541S (p.Arg541Ser) variant of LMNA (Prelamin-A/C)
R541S (p.Arg541Ser) 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 dilated cardiomyopathy; Charcot-Marie-Tooth disease type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
R541S (p.Arg541Ser) variant details
- p.Arg541Ser
- rs56984562
- ClinGen CA017601
- ClinVar RCV000057341
- ClinVar RCV000823221
- Pathogenic/Likely pathogenic
- Primary dilated cardiomyopathy; Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.875
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.95
- MetaSVM 1.06
- CADD 26.70
- ClinVar: Pathogenic/Likely pathogenic (Primary dilated cardiomyopathy; Charcot-Marie-Tooth disease type)
- EBI: Pathogenic (in EDMD2 and CMD1A)
- UniProt: Pathogenic (in EDMD2 and CMD1A)
- Population evidence available
- Structural context available
- Cited in: In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure… (PMID 16061563)
- Cited in: Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA… (PMID 20848652)