Q23L (p.Gln23Leu) variant of ACADM (P11310)
Q23L (p.Gln23Leu) in ACADM (P11310) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
Q23L (p.Gln23Leu) variant details
- p.Gln23Leu
- gnomAD 1-75728398-C-CTTT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.245
- CADD 14.50
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available