L46Q (p.Leu46Gln) variant of APOE (Apolipoprotein E)
L46Q (p.Leu46Gln) in APOE (Apolipoprotein E) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
L46Q (p.Leu46Gln) variant details
- p.Leu46Gln
- 1000Genomes rs769452
- ESP rs769452
- ExAC rs769452
- TOPMed rs769452
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available