L12F (p.Leu12Phe) variant of RELN (Reelin)
L12F (p.Leu12Phe) in RELN (Reelin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Norman-Roberts syndrome; Familial temporal lobe epilepsy 7. The record also includes variant effect predictions, population frequency data, and published literature.
L12F (p.Leu12Phe) variant details
- p.Leu12Phe
- rs760894850
- ClinGen CA4422740
- ClinVar RCV002015555
- ExAC rs760894850
- Likely benign
- Norman-Roberts syndrome; Familial temporal lobe epilepsy 7
- Missense
- REVEL 0.02
- MetaLR 0.04
- MetaSVM -1.04
- CADD 23.30
- PolyPhen-2 0.03
- SIFT 0.04
- ClinVar: Likely benign (Norman-Roberts syndrome; Familial temporal lobe epilepsy 7)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 3.4e-05)
- Cited in: Autosomal Dominant Epilepsy with Auditory Features. (PMID 20301709)