R89L (p.Arg89Leu) variant of LMNA (Prelamin-A/C)
R89L (p.Arg89Leu) 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 Charcot-Marie-Tooth disease type 2; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes published literature and structural context.
R89L (p.Arg89Leu) variant details
- p.Arg89Leu
- rs59040894
- ClinGen CA017839
- ClinVar RCV000057383
- ClinVar RCV000462640
- Pathogenic/Likely pathogenic
- Charcot-Marie-Tooth disease type 2; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.998
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Pathogenic/Likely pathogenic (Charcot-Marie-Tooth disease type 2; Cardiovascular phenotype)
- EBI: Pathogenic (in CMD1A)
- UniProt: Pathogenic (in CMD1A)
- Structural context available
- Cited in: Natural history of dilated cardiomyopathy due to lamin A/C gene mutations. (PMID 12628721)
- Cited in: Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial… (PMID 20160190)