R48P (p.Arg48Pro) variant of LMNA (Prelamin-A/C)
R48P (p.Arg48Pro) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Charcot-Marie-Tooth disease type 2; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes published literature and structural context.
R48P (p.Arg48Pro) variant details
- p.Arg48Pro
- rs1572332235
- ClinGen CA342807944
- ClinVar RCV000800232
- ClinVar RCV003235401
- Pathogenic
- Charcot-Marie-Tooth disease type 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 1
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Pathogenic (Charcot-Marie-Tooth disease type 2; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)