G11E (p.Gly11Glu) variant of ACADVL (P49748)
G11E (p.Gly11Glu) in ACADVL (P49748) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
G11E (p.Gly11Glu) variant details
- p.Gly11Glu
- gnomAD 17-7217153-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- CADD 23.70
- Most common in the Non-Finnish European population (allele frequency 5.3e-06)
- Structural context available
- Literature evidence available