P31R (p.Pro31Arg) variant of RELN (Reelin)
P31R (p.Pro31Arg) 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.
P31R (p.Pro31Arg) variant details
- p.Pro31Arg
- ExAC rs759623259
- TOPMed rs759623259
- gnomAD rs759623259
- Uncertain significance
- Missense
- REVEL 0.42
- MetaLR 0.11
- MetaSVM -0.88
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5e-05)