T11A (p.Thr11Ala) variant of ACAD9 (Q9H845)
T11A (p.Thr11Ala) in ACAD9 (Q9H845) is a missense change. Clinical records from ClinVar 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 0.21 / 1. The record also includes population frequency data and structural context.
T11A (p.Thr11Ala) variant details
- p.Thr11Ala
- ExAC rs751819378
- gnomAD rs751819378
- Uncertain significance
- Acyl-CoA dehydrogenase 9 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.24
- CADD 4.75
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Acyl-CoA dehydrogenase 9 deficiency)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available