R25G (p.Arg25Gly) variant of LMNA (Prelamin-A/C)
R25G (p.Arg25Gly) 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 Cardiovascular phenotype; Charcot-Marie-Tooth disease type 2; not provided. 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.
R25G (p.Arg25Gly) variant details
- p.Arg25Gly
- rs58327533
- ClinGen CA018531
- ClinVar RCV000057449
- ClinVar RCV001048135
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Charcot-Marie-Tooth disease type 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.97
- CADD 28.60
- PolyPhen-2 0.96
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Charcot-Marie-Tooth disease type 2; no)
- EBI: Pathogenic (in EDMD2)
- UniProt: Pathogenic (in EDMD2)
- Population evidence available
- Structural context available
- Cited in: Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes. (PMID 14684700)
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)