L92F (p.Leu92Phe) variant of LMNA (Prelamin-A/C)
L92F (p.Leu92Phe) 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 not provided; Cardiovascular phenotype; Charcot-Marie-Tooth disease type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
L92F (p.Leu92Phe) variant details
- p.Leu92Phe
- rs267607560
- ClinGen CA017846
- ClinVar RCV000057384
- ClinVar RCV002433553
- Pathogenic/Likely pathogenic
- not provided; Cardiovascular phenotype; Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 27.20
- ClinVar: Pathogenic/Likely pathogenic (not provided; Cardiovascular phenotype; Charcot-Marie-Tooth dise)
- EBI: Pathogenic (in CMD1A)
- UniProt: Pathogenic (in CMD1A)
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available
- Cited in: Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy. (PMID 21846512)
- Cited in: Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system… (PMID 10580070)