G11* (p.Gly11Ter) variant of ACADVL (P49748)
G11* (p.Gly11Ter) in ACADVL (P49748) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
G11* (p.Gly11Ter) variant details
- p.Gly11Ter
- gnomAD 17-7217173-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.756
- CADD 45.00
- Population evidence available
- Structural context available
- Literature evidence available