R15P (p.Arg15Pro) variant of ACAD9 (Q9H845)
R15P (p.Arg15Pro) in ACAD9 (Q9H845) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Acyl-CoA dehydrogenase 9 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
R15P (p.Arg15Pro) variant details
- p.Arg15Pro
- rs886057955
- ClinGen CA10617167
- ClinVar RCV000373076
- TOPMed rs886057955
- Uncertain significance
- Acyl-CoA dehydrogenase 9 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.55
- CADD 23.30
- PolyPhen-2 0.99
- SIFT 0.03
- ClinVar: Uncertain significance (Acyl-CoA dehydrogenase 9 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available