S268F (p.Ser268Phe) variant of ACAD9 (Q9H845)
S268F (p.Ser268Phe) 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 0.85 / 1. The record also includes population frequency data and structural context.
S268F (p.Ser268Phe) variant details
- p.Ser268Phe
- rs752571732
- ClinGen CA2601265
- ClinVar RCV002290211
- ExAC rs752571732
- Likely pathogenic
- Acyl-CoA dehydrogenase 9 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- REVEL 0.97
- CADD 27.00
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Likely pathogenic (Acyl-CoA dehydrogenase 9 deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available