Q72H (p.Gln72His) variant of RELN (Reelin)
Q72H (p.Gln72His) in RELN (Reelin) is a missense change. The record also includes variant effect predictions and population frequency data.
Q72H (p.Gln72His) variant details
- p.Gln72His
- ExAC rs771418741
- TOPMed rs771418741
- gnomAD rs771418741
- Missense
- REVEL 0.07
- MetaLR 0.04
- MetaSVM -1.08
- CADD 23.10
- PolyPhen-2 0.01
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 9e-07)