L530F (p.Leu530Phe) variant of LMNA (Prelamin-A/C)
L530F (p.Leu530Phe) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Muscular dystrophy; Charcot-Marie-Tooth disease type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes published literature and structural context.
L530F (p.Leu530Phe) variant details
- p.Leu530Phe
- rs1558133435
- ClinGen CA891842720
- ClinVar RCV000705726
- Ensembl rs1558133435
- Pathogenic
- Muscular dystrophy; Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.995
- ESM-1b 1.00
- AlphaMissense 0.99
- ClinVar: Pathogenic (Charcot-Marie-Tooth disease type 2)
- EBI: Pathogenic (in EDMD2)
- UniProt: Pathogenic (in EDMD2)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)