R8P (p.Arg8Pro) variant of RELN (Reelin)
R8P (p.Arg8Pro) in RELN (Reelin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes variant effect predictions and population frequency data.
R8P (p.Arg8Pro) variant details
- p.Arg8Pro
- ExAC rs765261158
- TOPMed rs765261158
- gnomAD rs765261158
- Likely benign
- Missense
- REVEL 0.05
- MetaLR 0.05
- MetaSVM -1.02
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.27
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 3e-05)