V36L (p.Val36Leu) variant of ACAD9 (Q9H845)
V36L (p.Val36Leu) 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 0.20 / 1. The record also includes population frequency data and structural context.
V36L (p.Val36Leu) variant details
- p.Val36Leu
- rs780117832
- ClinGen CA2601024
- ClinVar RCV001151049
- ExAC rs780117832
- Uncertain significance
- Acyl-CoA dehydrogenase 9 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.25
- CADD 8.47
- PolyPhen-2 0.00
- SIFT 0.51
- ClinVar: Uncertain significance (Acyl-CoA dehydrogenase 9 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9e-05)
- Structural context available