R8L (p.Arg8Leu) variant of RELN (Reelin)
R8L (p.Arg8Leu) in RELN (Reelin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes variant effect predictions.
R8L (p.Arg8Leu) variant details
- p.Arg8Leu
- ExAC rs765261158
- TOPMed rs765261158
- gnomAD rs765261158
- Uncertain significance
- Inborn genetic diseases
- Missense
- MetaLR 0.05
- MetaSVM -0.98
- SIFT 0.28
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign