L87F (p.Leu87Phe) variant of RELN (Reelin)
L87F (p.Leu87Phe) 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.
L87F (p.Leu87Phe) variant details
- p.Leu87Phe
- rs779347175
- ClinGen CA4422642
- ClinVar RCV001905465
- ExAC rs779347175
- Uncertain significance
- Norman-Roberts syndrome; Familial temporal lobe epilepsy 7
- Missense
- REVEL 0.29
- MetaLR 0.04
- MetaSVM -1.02
- CADD 21.20
- PolyPhen-2 0.99
- SIFT 0.45
- ClinVar: Uncertain significance (Norman-Roberts syndrome; Familial temporal lobe epilepsy 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Cited in: Autosomal Dominant Epilepsy with Auditory Features. (PMID 20301709)