G18W (p.Gly18Trp) variant of ACADVL (P49748)
G18W (p.Gly18Trp) in ACADVL (P49748) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
G18W (p.Gly18Trp) variant details
- p.Gly18Trp
- gnomAD 17-7220036-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.47
- CADD 10.30
- PolyPhen-2 0.47
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available