Q30L (p.Gln30Leu) variant of ACADVL (P49748)
Q30L (p.Gln30Leu) in ACADVL (P49748) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
Q30L (p.Gln30Leu) variant details
- p.Gln30Leu
- gnomAD 17-7217755-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- CADD 18.70
- Most common in the Non-Finnish European population (allele frequency 7.4e-06)
- Structural context available
- Literature evidence available