L380S (p.Leu380Ser) variant of LMNA (Prelamin-A/C)
L380S (p.Leu380Ser) 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 0.98 / 1. The record also includes published literature and structural context.
L380S (p.Leu380Ser) variant details
- p.Leu380Ser
- rs121912495
- ClinGen CA016670
- ClinVar RCV000015620
- ClinVar RCV000057237
- Pathogenic
- Congenital muscular dystrophy due to LMNA mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.977
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Congenital muscular dystrophy due to LMNA mutation)
- EBI: Pathogenic (in MDCL)
- UniProt: Pathogenic (in MDCL)
- Structural context available
- Cited in: De novo LMNA mutations cause a new form of congenital muscular dystrophy. (PMID 18551513)