R541H (p.Arg541His) variant of LMNA (Prelamin-A/C)
R541H (p.Arg541His) 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 LMNA-related disorder; Cardiovascular phenotype; Charcot-Marie-Tooth disease typ. 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.
R541H (p.Arg541His) variant details
- p.Arg541His
- rs61444459
- ClinGen CA017621
- ClinVar RCV000057344
- ClinVar RCV000221013
- Pathogenic/Likely pathogenic
- LMNA-related disorder; Cardiovascular phenotype; Charcot-Marie-Tooth disease typ
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.10
- CADD 32.00
- ClinVar: Pathogenic/Likely pathogenic (LMNA-related disorder; Cardiovascular phenotype; Charcot-Marie-T)
- EBI: Pathogenic (in EDMD2)
- UniProt: Pathogenic (in EDMD2)
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- Cited in: Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes. (PMID 14684700)
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)