Q52E (p.Gln52Glu) variant of RELN (Reelin)
Q52E (p.Gln52Glu) in RELN (Reelin) is a missense change. The record also includes variant effect predictions and population frequency data.
Q52E (p.Gln52Glu) variant details
- p.Gln52Glu
- ESP rs372475867
- ExAC rs372475867
- TOPMed rs372475867
- gnomAD rs372475867
- Missense
- REVEL 0.10
- MetaLR 0.03
- MetaSVM -1.07
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 2.4e-05)