Q9E (p.Gln9Glu) variant of RELN (Reelin)
Q9E (p.Gln9Glu) 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 and published literature.
Q9E (p.Gln9Glu) variant details
- p.Gln9Glu
- rs1797174077
- ClinGen CA368931615
- ClinVar RCV001239697
- Ensembl rs1797174077
- Uncertain significance
- Norman-Roberts syndrome; Familial temporal lobe epilepsy 7
- Missense
- AlphaMissense 0.08
- MetaLR 0.02
- MetaSVM -1.03
- PolyPhen-2 0.00
- SIFT 0.34
- MutPred 0.46
- ClinVar: Uncertain significance (Norman-Roberts syndrome; Familial temporal lobe epilepsy 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Autosomal Dominant Epilepsy with Auditory Features. (PMID 20301709)