E54D (p.Glu54Asp) variant of RELN (Reelin)
E54D (p.Glu54Asp) in RELN (Reelin) is a missense change. The record also includes variant effect predictions and population frequency data.
E54D (p.Glu54Asp) variant details
- p.Glu54Asp
- Ensembl rs1797169282
- Missense
- REVEL 0.14
- MetaLR 0.04
- MetaSVM -1.07
- CADD 23.10
- PolyPhen-2 0.30
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 9e-07)