A326P (p.Ala326Pro) variant of ACAD9 (Q9H845)
A326P (p.Ala326Pro) in ACAD9 (Q9H845) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Mitochondrial complex I deficiency; Possible mitochondrial disorder - nuclear ge. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
A326P (p.Ala326Pro) variant details
- p.Ala326Pro
- rs115532916
- ClinGen CA129519
- ClinVar RCV000023868
- ClinVar RCV000198883
- Pathogenic/Likely pathogenic
- Mitochondrial complex I deficiency; Possible mitochondrial disorder - nuclear ge
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- REVEL 0.96
- AlphaMissense 0.26
- MetaLR 0.89
- MetaSVM 0.74
- CADD 26.10
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Mitochondrial complex I deficiency; Possible mitochondrial disor)
- EBI: Pathogenic (in MC1DN20)
- UniProt: Pathogenic (in MC1DN20)
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Cited in: Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency. (PMID 21057504)