E52F (p.Glu52Phe) variant of ACAD9 (Q9H845)
E52F (p.Glu52Phe) in ACAD9 (Q9H845) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
E52F (p.Glu52Phe) variant details
- p.Glu52Phe
- rs762859894
- gnomAD 3-128884650-TAGAA
- Splice Acceptor
- Variant Prioritization Score for Impact Estimate 0.601
- CADD 33.00
- Population evidence available
- Structural context available
- Literature evidence available