L8R (p.Leu8Arg) variant of ACAD9 (Q9H845)
L8R (p.Leu8Arg) in ACAD9 (Q9H845) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
L8R (p.Leu8Arg) variant details
- p.Leu8Arg
- rs772312138
- gnomAD 3-128879713-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.216
- CADD 19.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available