G63S (p.Gly63Ser) variant of RELN (Reelin)
G63S (p.Gly63Ser) in RELN (Reelin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and population frequency data.
G63S (p.Gly63Ser) variant details
- p.Gly63Ser
- ExAC rs752841369
- TOPMed rs752841369
- gnomAD rs752841369
- Uncertain significance
- Missense
- REVEL 0.28
- AlphaMissense 0.18
- MetaLR 0.17
- MetaSVM -0.80
- CADD 27.90
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)