F37L (p.Phe37Leu) variant of RELN (Reelin)
F37L (p.Phe37Leu) in RELN (Reelin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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.
F37L (p.Phe37Leu) variant details
- p.Phe37Leu
- rs1797170618
- ClinGen CA368931459
- ClinVar RCV003046415
- Uncertain significance
- Norman-Roberts syndrome; Familial temporal lobe epilepsy 7
- Missense
- REVEL 0.29
- MetaLR 0.07
- MetaSVM -0.97
- CADD 32.00
- PolyPhen-2 0.90
- SIFT 0.00
- ClinVar: Uncertain significance (Norman-Roberts syndrome; Familial temporal lobe epilepsy 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Cited in: Autosomal Dominant Epilepsy with Auditory Features. (PMID 20301709)