A278P (p.Ala278Pro) variant of LMNA (Prelamin-A/C)
A278P (p.Ala278Pro) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Muscular dystrophy; 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.
A278P (p.Ala278Pro) variant details
- p.Ala278Pro
- rs1553265433
- ClinGen CA342817513
- cosmic curated COSV61543
- ClinVar RCV000503745
- Pathogenic
- Muscular dystrophy; Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 1
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Pathogenic (Muscular dystrophy; Charcot-Marie-Tooth disease type 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)