G28A (p.Gly28Ala) variant of RELN (Reelin)
G28A (p.Gly28Ala) in RELN (Reelin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes variant effect predictions and population frequency data.
G28A (p.Gly28Ala) variant details
- p.Gly28Ala
- rs757218424
- ExAC rs757218424
- gnomAD rs757218424
- Variant assessed as somatic; moderate impact.
- Missense
- REVEL 0.08
- MetaLR 0.04
- MetaSVM -1.06
- CADD 23.80
- PolyPhen-2 0.15
- SIFT 0.10
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)