L56F (p.Leu56Phe) variant of RELN (Reelin)
L56F (p.Leu56Phe) 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.
L56F (p.Leu56Phe) variant details
- p.Leu56Phe
- rs777758550
- ClinGen CA4422708
- ClinVar RCV001953306
- ExAC rs777758550
- Likely benign
- Norman-Roberts syndrome; Familial temporal lobe epilepsy 7
- Missense
- REVEL 0.32
- MetaLR 0.10
- MetaSVM -0.96
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Likely benign (Norman-Roberts syndrome; Familial temporal lobe epilepsy 7)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00021)
- Cited in: Autosomal Dominant Epilepsy with Auditory Features. (PMID 20301709)