M1V (p.Met1Val) variant of ACAD9 (Q9H845)
M1V (p.Met1Val) in ACAD9 (Q9H845) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Acyl-CoA dehydrogenase 9 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs773949927
- ClinGen CA353808
- ClinVar RCV003556294
- Pathogenic/Likely pathogenic
- not provided; Acyl-CoA dehydrogenase 9 deficiency
- 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 (not provided; Acyl-CoA dehydrogenase 9 deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available