F11L (p.Phe11Leu) variant of RELN (Reelin)
F11L (p.Phe11Leu) in RELN (Reelin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Familial temporal lobe epilepsy 7; Norman-Roberts syndrome. The record also includes variant effect predictions and population frequency data.
F11L (p.Phe11Leu) variant details
- p.Phe11Leu
- TOPMed rs1258431125
- gnomAD rs1258431125
- Uncertain significance
- Familial temporal lobe epilepsy 7; Norman-Roberts syndrome
- Missense
- REVEL 0.04
- MetaLR 0.03
- MetaSVM -1.00
- CADD 17.00
- PolyPhen-2 0.00
- SIFT 0.82
- ClinVar: Uncertain significance (Familial temporal lobe epilepsy 7; Norman-Roberts syndrome)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.4e-05)