M1L (p.Met1Leu) variant of ACAD9 (Q9H845)
M1L (p.Met1Leu) in ACAD9 (Q9H845) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Acyl-CoA dehydrogenase 9 deficiency; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs773949927
- ClinGen CA2600992
- ClinVar RCV001974959
- ClinVar RCV005023492
- Pathogenic/Likely pathogenic
- Acyl-CoA dehydrogenase 9 deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- MetaLR 0.92
- MetaSVM 0.53
- PolyPhen-2 0.70
- SIFT 0.00
- MutPred 0.99
- ClinVar: Pathogenic/Likely pathogenic (Acyl-CoA dehydrogenase 9 deficiency; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available