R25P (p.Arg25Pro) variant of LMNA (Prelamin-A/C)
R25P (p.Arg25Pro) 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 Charcot-Marie-Tooth disease type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes published literature and structural context.
R25P (p.Arg25Pro) variant details
- p.Arg25Pro
- rs61578124
- ClinGen CA018579
- ClinVar RCV000057454
- ClinVar RCV002513740
- Likely pathogenic
- Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.996
- ESM-1b 1.00
- AlphaMissense 0.99
- ClinVar: Likely pathogenic (Charcot-Marie-Tooth disease type 2)
- EBI: Pathogenic (in EDMD2)
- UniProt: Pathogenic (in EDMD2)
- Structural context available
- Cited in: Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy. (PMID 11503164)
- Cited in: Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA… (PMID 20848652)