H563D (p.His563Asp) variant of ACAD9 (Q9H845)
H563D (p.His563Asp) in ACAD9 (Q9H845) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Acyl-CoA dehydrogenase 9 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
H563D (p.His563Asp) variant details
- p.His563Asp
- rs1057518752
- ClinGen CA16042262
- ClinVar RCV000412667
- Ensembl rs1057518752
- Pathogenic
- Acyl-CoA dehydrogenase 9 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- REVEL 0.69
- AlphaMissense 0.46
- MetaLR 0.53
- MetaSVM 0.21
- CADD 24.20
- PolyPhen-2 0.98
- ClinVar: Pathogenic (Acyl-CoA dehydrogenase 9 deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Evidence of a wide spectrum of cardiac involvement due to ACAD9 mutations: Report on nine patients. (PMID 27233227)