P281L (p.Pro281Leu) variant of ACAD9 (Q9H845)
P281L (p.Pro281Leu) 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 0.84 / 1. The record also includes structural context.
P281L (p.Pro281Leu) variant details
- p.Pro281Leu
- rs1935731505
- ClinGen CA354435038
- ClinVar RCV001089484
- Ensembl rs1935731505
- Likely pathogenic
- Acyl-CoA dehydrogenase 9 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- AlphaMissense 0.39
- MetaLR 1.00
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Likely pathogenic (Acyl-CoA dehydrogenase 9 deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available