L56V (p.Leu56Val) variant of RELN (Reelin)
L56V (p.Leu56Val) 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.
L56V (p.Leu56Val) variant details
- p.Leu56Val
- ExAC rs777758550
- gnomAD rs777758550
- Likely benign
- Missense
- REVEL 0.34
- MetaLR 0.10
- MetaSVM -0.97
- CADD 25.10
- SIFT 0.09
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00021)