E40Q (p.Glu40Gln) variant of ACADM (P11310)
E40Q (p.Glu40Gln) in ACADM (P11310) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes structural context.
E40Q (p.Glu40Gln) variant details
- p.Glu40Gln
- rs398123071
- ClinGen CA220167
- ClinVar RCV000077879
- TOPMed rs398123071
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- AlphaMissense 0.14
- MetaLR 0.77
- MetaSVM 0.48
- PolyPhen-2 0.00
- SIFT 0.26
- MutPred 0.26
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available