E86Q (p.Glu86Gln) variant of ABCC9 (O60706)
E86Q (p.Glu86Gln) in ABCC9 (O60706) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dilated cardiomyopathy 1O; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
E86Q (p.Glu86Gln) variant details
- p.Glu86Gln
- rs774026262
- ClinGen CA6481923
- ClinVar RCV000617768
- ClinVar RCV001346344
- Uncertain significance
- Dilated cardiomyopathy 1O; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- REVEL 0.75
- CADD 25.30
- PolyPhen-2 0.79
- SIFT 0.05
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1O; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)