R249G (p.Arg249Gly) variant of LMNA (Prelamin-A/C)
R249G (p.Arg249Gly) 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; Charcot-Marie-Tooth disease type 2; Emery-Dreifuss muscular dystrop. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes published literature and structural context.
R249G (p.Arg249Gly) variant details
- p.Arg249Gly
- rs121912496
- ClinGen CA018552
- ClinVar RCV000041362
- ClinVar RCV000818791
- Pathogenic/Likely pathogenic
- Laminopathy; Charcot-Marie-Tooth disease type 2; Emery-Dreifuss muscular dystrop
- Missense
- Variant Prioritization Score for Impact Estimate 0.998
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Pathogenic/Likely pathogenic (Laminopathy; Charcot-Marie-Tooth disease type 2; Emery-Dreifuss)
- EBI: Pathogenic (in MDCL and EDMD2)
- UniProt: Pathogenic (in MDCL and EDMD2)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: Emery-Dreifuss Muscular Dystrophy. (PMID 20301609)