Q30R (p.Gln30Arg) variant of ACADVL (P49748)
Q30R (p.Gln30Arg) in ACADVL (P49748) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
Q30R (p.Gln30Arg) variant details
- p.Gln30Arg
- gnomAD 17-7217755-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- CADD 14.30
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available