R296L (p.Arg296Leu) variant of LMNA (Prelamin-A/C)
R296L (p.Arg296Leu) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Charcot-Marie-Tooth disease type 2; Congenital muscula. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R296L (p.Arg296Leu) variant details
- p.Arg296Leu
- rs1024051591
- ClinGen CA342817768
- ClinVar RCV003112095
- TOPMed rs1024051591
- Uncertain significance
- Cardiovascular phenotype; Charcot-Marie-Tooth disease type 2; Congenital muscula
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.77
- MetaLR 0.88
- MetaSVM 0.94
- CADD 28.20
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BRAHUI population (allele frequency 0.065)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)