W520C (p.Trp520Cys) variant of LMNA (Prelamin-A/C)
W520C (p.Trp520Cys) 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 Congenital muscular dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes published literature and structural context.
W520C (p.Trp520Cys) variant details
- p.Trp520Cys
- rs794728595
- ClinGen CA342823357
- ClinVar RCV003581428
- ClinGen CA342823355
- Likely pathogenic
- Congenital muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 1
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Likely pathogenic (Congenital muscular dystrophy)
- EBI: Likely pathogenic (in EDMD2)
- UniProt: Likely pathogenic (in EDMD2)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: Consensus statement on standard of care for congenital muscular dystrophies. (PMID 21078917)