G11C (p.Gly11Cys) variant of ACADVL (P49748)
G11C (p.Gly11Cys) 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.
G11C (p.Gly11Cys) variant details
- p.Gly11Cys
- gnomAD 17-7217155-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- CADD 24.50
- Population evidence available
- Structural context available
- Literature evidence available