M1L (p.Met1Leu) variant of LMNA (Prelamin-A/C)
M1L (p.Met1Leu) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Charcot-Marie-Tooth disease type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes published literature and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs2102816719
- ClinGen CA342805814
- ClinVar RCV001390690
- Pathogenic
- Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- ESM-1b 1.00
- AlphaMissense 0.41
- ClinVar: Pathogenic (Charcot-Marie-Tooth disease type 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)