L98S (p.Leu98Ser) variant of ACAD9 (Q9H845)
L98S (p.Leu98Ser) in ACAD9 (Q9H845) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Mitochondrial complex I deficiency; Acyl-CoA dehydrogenase 9 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
L98S (p.Leu98Ser) variant details
- p.Leu98Ser
- rs1012004126
- ClinGen CA82524171
- NCI-TCGA Cosmic COSV5830
- ClinVar RCV003486299
- Likely pathogenic
- Mitochondrial complex I deficiency; Acyl-CoA dehydrogenase 9 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- REVEL 0.92
- CADD 26.90
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Likely pathogenic (Mitochondrial complex I deficiency; Acyl-CoA dehydrogenase 9 def)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available