R25C (p.Arg25Cys) variant of LMNA (Prelamin-A/C)
R25C (p.Arg25Cys) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cardiovascular phenotype; Charcot-Marie-Tooth disease type 2; Dilated cardiomyop. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R25C (p.Arg25Cys) variant details
- p.Arg25Cys
- rs58327533
- ClinGen CA018538
- ClinVar RCV000057450
- ClinVar RCV001049614
- Likely pathogenic
- Cardiovascular phenotype; Charcot-Marie-Tooth disease type 2; Dilated cardiomyop
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- REVEL 0.89
- ESM-1b 1.00
- AlphaMissense 0.93
- CADD 25.80
- PolyPhen-2 0.23
- SIFT 0.01
- ClinVar: Likely pathogenic (Cardiovascular phenotype; Charcot-Marie-Tooth disease type 2; Di)
- EBI: Pathogenic (in EDMD2)
- UniProt: Pathogenic (in EDMD2)
- Population evidence available
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)