A23E (p.Ala23Glu) variant of RELN (Reelin)
A23E (p.Ala23Glu) 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.
A23E (p.Ala23Glu) variant details
- p.Ala23Glu
- ESP rs370745351
- ExAC rs370745351
- gnomAD rs370745351
- Likely benign
- Missense
- REVEL 0.21
- MetaLR 0.04
- MetaSVM -1.02
- CADD 22.00
- PolyPhen-2 0.13
- SIFT 0.26
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 2.3e-05)