G11A (p.Gly11Ala) variant of ACADVL (P49748)
G11A (p.Gly11Ala) in ACADVL (P49748) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
G11A (p.Gly11Ala) variant details
- p.Gly11Ala
- rs1278225233
- gnomAD 17-7217150-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.644
- CADD 27.50
- Population evidence available
- Structural context available
- Literature evidence available