E2A (p.Glu2Ala) variant of RELN (Reelin)
E2A (p.Glu2Ala) in RELN (Reelin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions.
E2A (p.Glu2Ala) variant details
- p.Glu2Ala
- ExAC rs751188993
- TOPMed rs751188993
- gnomAD rs751188993
- Uncertain significance
- Missense
- MetaLR 0.05
- MetaSVM -1.06
- SIFT 0.14
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance