G48R (p.Gly48Arg) variant of RELN (Reelin)
G48R (p.Gly48Arg) in RELN (Reelin) is a missense change. The record also includes variant effect predictions and population frequency data.
G48R (p.Gly48Arg) variant details
- p.Gly48Arg
- gnomAD rs1476609646
- Missense
- REVEL 0.31
- MetaLR 0.10
- MetaSVM -0.95
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)