R16G (p.Arg16Gly) variant of ACADVL (P49748)
R16G (p.Arg16Gly) in ACADVL (P49748) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
R16G (p.Arg16Gly) variant details
- p.Arg16Gly
- ExAC rs763471070
- gnomAD rs763471070
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.58
- CADD 16.50
- PolyPhen-2 0.05
- SIFT 0.01
- Population evidence available
- Structural context available