G11R (p.Gly11Arg) variant of ACADVL (P49748)
G11R (p.Gly11Arg) in ACADVL (P49748) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
G11R (p.Gly11Arg) variant details
- p.Gly11Arg
- gnomAD 17-7217152-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- CADD 23.50
- Most common in the Non-Finnish European population (allele frequency 3.2e-06)
- Structural context available
- Literature evidence available