G18E (p.Gly18Glu) variant of RELN (Reelin)
G18E (p.Gly18Glu) in RELN (Reelin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes variant effect predictions and population frequency data.
G18E (p.Gly18Glu) variant details
- p.Gly18Glu
- rs1352208816
- gnomAD rs1352208816
- Uncertain significance
- not provided
- Missense
- REVEL 0.17
- AlphaMissense 0.40
- MetaLR 0.08
- MetaSVM -0.98
- CADD 23.30
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5e-05)