G11D (p.Gly11Asp) variant of ACADVL (P49748)
G11D (p.Gly11Asp) in ACADVL (P49748) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
G11D (p.Gly11Asp) variant details
- p.Gly11Asp
- gnomAD 17-7217156-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- CADD 23.70
- Most common in the East Asian population (allele frequency 3.7e-05)
- Structural context available
- Literature evidence available