L286P (p.Leu286Pro) variant of ACAD9 (Q9H845)
L286P (p.Leu286Pro) 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 0.75 / 1. The record also includes population frequency data and structural context.
L286P (p.Leu286Pro) variant details
- p.Leu286Pro
- TOPMed rs1190518568
- gnomAD rs1190518568
- Likely pathogenic
- Acyl-CoA dehydrogenase 9 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- REVEL 0.84
- CADD 25.40
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Likely pathogenic (Acyl-CoA dehydrogenase 9 deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available