E383K (p.Glu383Lys) variant of LMNA (Prelamin-A/C)
E383K (p.Glu383Lys) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Congenital muscular dystrophy due to LMNA mutation; Charcot-Marie-Tooth disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
E383K (p.Glu383Lys) variant details
- p.Glu383Lys
- rs1651580090
- ClinGen CA342820637
- cosmic curated COSV61543
- ClinVar RCV001220492
- Pathogenic/Likely pathogenic
- Congenital muscular dystrophy due to LMNA mutation; Charcot-Marie-Tooth disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.967
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Congenital muscular dystrophy due to LMNA mutation; Charcot-Mari)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)