L21V (p.Leu21Val) variant of RELN (Reelin)
L21V (p.Leu21Val) 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.
L21V (p.Leu21Val) variant details
- p.Leu21Val
- Ensembl rs1797172669
- Likely benign
- Missense
- REVEL 0.04
- MetaLR 0.04
- MetaSVM -1.06
- CADD 21.00
- PolyPhen-2 0.04
- SIFT 0.56
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 2.3e-05)