M1I (p.Met1Ile) variant of ACAD9 (Q9H845)
M1I (p.Met1Ile) in ACAD9 (Q9H845) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs2107636803
- ClinGen CA354429485
- ClinVar RCV001993054
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- MetaLR 0.93
- MetaSVM 0.64
- PolyPhen-2 0.92
- SIFT 0.00
- MutPred 0.98
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available