R23G (p.Arg23Gly) variant of ACADVL (P49748)
R23G (p.Arg23Gly) in ACADVL (P49748) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
R23G (p.Arg23Gly) variant details
- p.Arg23Gly
- ExAC rs766286327
- gnomAD rs766286327
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.35
- CADD 19.80
- PolyPhen-2 0.06
- SIFT 0.11
- Population evidence available
- Structural context available