P70S (p.Pro70Ser) variant of RELN (Reelin)
P70S (p.Pro70Ser) in RELN (Reelin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and population frequency data.
P70S (p.Pro70Ser) variant details
- p.Pro70Ser
- rs773680003
- ExAC rs773680003
- gnomAD rs773680003
- Uncertain significance
- Missense
- REVEL 0.24
- MetaLR 0.19
- MetaSVM -0.83
- CADD 24.30
- PolyPhen-2 0.05
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)