E2D (p.Glu2Asp) variant of RELN (Reelin)
E2D (p.Glu2Asp) in RELN (Reelin) is a missense change. The record also includes variant effect predictions and population frequency data.
E2D (p.Glu2Asp) variant details
- p.Glu2Asp
- TOPMed rs1386205628
- gnomAD rs1386205628
- Missense
- REVEL 0.06
- MetaLR 0.04
- MetaSVM -1.04
- CADD 23.50
- PolyPhen-2 0.05
- SIFT 0.23
- Most common in the Middle Eastern population (allele frequency 0.00022)