L530P (p.Leu530Pro) variant of LMNA (Prelamin-A/C)
L530P (p.Leu530Pro) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Emery-Dreifuss muscular dystrophy 2, autosomal dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
L530P (p.Leu530Pro) variant details
- p.Leu530Pro
- rs60934003
- ClinGen CA017541
- ClinVar RCV000015571
- ClinVar RCV000057333
- Pathogenic
- Emery-Dreifuss muscular dystrophy 2, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- REVEL 0.98
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Emery-Dreifuss muscular dystrophy 2, autosomal dominant)
- EBI: Pathogenic (in EDMD2)
- UniProt: Pathogenic (in EDMD2)
- Population evidence available
- Structural context available
- Cited in: Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. (PMID 10080180)
- Cited in: Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial… (PMID 11792809)