I58L (p.Ile58Leu) variant of ABCC9 (O60706)
I58L (p.Ile58Leu) in ABCC9 (O60706) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Dilated cardiomyopathy 1O. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
I58L (p.Ile58Leu) variant details
- p.Ile58Leu
- TOPMed rs1232644596
- gnomAD rs1232644596
- Uncertain significance
- Dilated cardiomyopathy 1O
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- REVEL 0.74
- CADD 22.90
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1O)
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available