E2Q (p.Glu2Gln) variant of RELN (Reelin)
E2Q (p.Glu2Gln) in RELN (Reelin) is a missense change. The record also includes variant effect predictions and population frequency data.
E2Q (p.Glu2Gln) variant details
- p.Glu2Gln
- ExAC rs754706510
- gnomAD rs754706510
- Missense
- REVEL 0.03
- MetaLR 0.05
- MetaSVM -1.06
- CADD 23.50
- PolyPhen-2 0.18
- SIFT 0.14
- Most common in the South Asian population (allele frequency 0.00027)