R349W (p.Arg349Trp) variant of LMNA (Prelamin-A/C)
R349W (p.Arg349Trp) 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 Laminopathy; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Heart-hand. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
R349W (p.Arg349Trp) variant details
- p.Arg349Trp
- rs267607555
- ClinGen CA016479
- cosmic curated COSV10073
- ClinVar RCV000057218
- Pathogenic/Likely pathogenic
- Laminopathy; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Heart-hand
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- REVEL 0.79
- ESM-1b 1.00
- AlphaMissense 0.91
- CADD 29.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Laminopathy; Emery-Dreifuss muscular dystrophy 2, autosomal domi)
- EBI: Pathogenic (in CMD1A)
- UniProt: Pathogenic (in CMD1A)
- Most common in the 1KG:CDX population (allele frequency 0.017)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)