R532Q (p.Arg532Gln) variant of ACAD9 (Q9H845)
R532Q (p.Arg532Gln) in ACAD9 (Q9H845) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Acyl-CoA dehydrogenase 9 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
R532Q (p.Arg532Gln) variant details
- p.Arg532Gln
- rs770127110
- ClinGen CA353823
- ClinVar RCV002262848
- ClinVar RCV003469175
- Likely pathogenic
- not provided; Acyl-CoA dehydrogenase 9 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.63
- CADD 25.90
- PolyPhen-2 0.64
- SIFT 0.01
- ClinVar: Likely pathogenic (not provided; Acyl-CoA dehydrogenase 9 deficiency)
- EBI: Likely pathogenic (in MC1DN20)
- UniProt: Likely pathogenic (in MC1DN20)
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available