M1I (p.Met1Ile) variant of LMNA (Prelamin-A/C)
M1I (p.Met1Ile) in LMNA (Prelamin-A/C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Charcot-Marie-Tooth disease type 2; See cases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs794728598
- ClinGen CA018051
- ClinVar RCV000182378
- ClinVar RCV002515313
- Uncertain significance
- not provided; Charcot-Marie-Tooth disease type 2; See cases
- Missense
- Variant Prioritization Score for Impact Estimate 0.96
- ESM-1b 1.00
- AlphaMissense 0.91
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)