G4E (p.Gly4Glu) variant of ACADM (P11310)
G4E (p.Gly4Glu) in ACADM (P11310) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
G4E (p.Gly4Glu) variant details
- p.Gly4Glu
- 1000Genomes rs201646499
- ExAC rs201646499
- TOPMed rs201646499
- gnomAD rs201646499
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.20
- CADD 9.91
- PolyPhen-2 0.00
- SIFT 0.30
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available