A14V (p.Ala14Val) variant of ACAD9 (Q9H845)
A14V (p.Ala14Val) 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 0.46 / 1. The record also includes population frequency data and structural context.
A14V (p.Ala14Val) variant details
- p.Ala14Val
- rs886057954
- ClinGen CA10617263
- ClinVar RCV000324385
- TOPMed rs886057954
- Uncertain significance
- Acyl-CoA dehydrogenase 9 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.27
- CADD 16.00
- PolyPhen-2 0.01
- SIFT 0.10
- ClinVar: Uncertain significance (Acyl-CoA dehydrogenase 9 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available