G5S (p.Gly5Ser) variant of RELN (Reelin)
G5S (p.Gly5Ser) 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.
G5S (p.Gly5Ser) variant details
- p.Gly5Ser
- rs766288841
- ClinGen CA4422745
- ClinVar RCV003043743
- ExAC rs766288841
- Uncertain significance
- Norman-Roberts syndrome; Familial temporal lobe epilepsy 7
- Missense
- REVEL 0.04
- MetaLR 0.02
- MetaSVM -0.96
- CADD 3.76
- PolyPhen-2 0.00
- SIFT 0.64
- 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 1.5e-05)
- Cited in: Autosomal Dominant Epilepsy with Auditory Features. (PMID 20301709)