E564K (p.Glu564Lys) variant of ACAD9 (Q9H845)
E564K (p.Glu564Lys) in ACAD9 (Q9H845) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Acyl-CoA dehydrogenase 9 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
E564K (p.Glu564Lys) variant details
- p.Glu564Lys
- rs780654152
- ClinVar RCV004573815
- ExAC rs780654152
- TOPMed rs780654152
- Likely pathogenic
- Acyl-CoA dehydrogenase 9 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- REVEL 0.63
- CADD 25.90
- PolyPhen-2 0.86
- SIFT 0.00
- ClinVar: Likely pathogenic (Acyl-CoA dehydrogenase 9 deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available