I26L (p.Ile26Leu) variant of LMNA (Prelamin-A/C)
I26L (p.Ile26Leu) 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 Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
I26L (p.Ile26Leu) variant details
- p.Ile26Leu
- rs1302425397
- ClinGen CA342807269
- ClinVar RCV003532550
- gnomAD rs1302425397
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.40
- ESM-1b 0.91
- AlphaMissense 0.47
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.45
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:SARDINIAN population (allele frequency 0.056)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)