G63D (p.Gly63Asp) variant of RELN (Reelin)
G63D (p.Gly63Asp) 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.
G63D (p.Gly63Asp) variant details
- p.Gly63Asp
- rs1085307660
- ClinGen CA368931287
- ClinVar RCV000489323
- TOPMed rs1085307660
- Uncertain significance
- not provided
- Missense
- REVEL 0.32
- MetaLR 0.19
- MetaSVM -0.78
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)