R541P (p.Arg541Pro) variant of LMNA (Prelamin-A/C)
R541P (p.Arg541Pro) 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 Bethlem myopathy 1A; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
R541P (p.Arg541Pro) variant details
- p.Arg541Pro
- rs61444459
- ClinGen CA017630
- ClinVar RCV000057345
- ClinVar RCV005089469
- Pathogenic/Likely pathogenic
- Bethlem myopathy 1A; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.966
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Bethlem myopathy 1A; not provided)
- EBI: Pathogenic (in EDMD2)
- UniProt: Pathogenic (in EDMD2)
- Structural context available
- Cited in: Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA… (PMID 20848652)
- Cited in: Collagen VI-Related Dystrophies. (PMID 20301676)