S143F (p.Ser143Phe) variant of LMNA (Prelamin-A/C)
S143F (p.Ser143Phe) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Congenital muscular dystrophy due to LMNA mutation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
S143F (p.Ser143Phe) variant details
- p.Ser143Phe
- rs58912633
- ClinGen CA018089
- ClinVar RCV000015604
- ClinVar RCV000057405
- Pathogenic
- Congenital muscular dystrophy due to LMNA mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.936
- ESM-1b 1.00
- AlphaMissense 0.86
- ClinVar: Pathogenic (Congenital muscular dystrophy due to LMNA mutation)
- EBI: Pathogenic (in HGPS)
- UniProt: Pathogenic (in HGPS)
- Structural context available
- Cited in: p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria. (PMID 15622532)
- Cited in: Nesprin-2 giant safeguards nuclear envelope architecture in LMNA S143F progeria cells. (PMID 17881656)