R11C (p.Arg11Cys) variant of LMNA (Prelamin-A/C)
R11C (p.Arg11Cys) 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 Cardiomyopathy; Cardiovascular phenotype; Charcot-Marie-Tooth disease type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
R11C (p.Arg11Cys) variant details
- p.Arg11Cys
- rs755465323
- ClinGen CA342806862
- ClinVar RCV003311164
- ClinVar RCV003745581
- Uncertain significance
- Cardiomyopathy; Cardiovascular phenotype; Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- REVEL 0.59
- ESM-1b 1.00
- AlphaMissense 0.56
- CADD 26.40
- PolyPhen-2 0.73
- SIFT 0.12
- ClinVar: Uncertain significance (Cardiomyopathy; Cardiovascular phenotype; Charcot-Marie-Tooth di)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)