G18V (p.Gly18Val) variant of RELN (Reelin)
G18V (p.Gly18Val) 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.
G18V (p.Gly18Val) variant details
- p.Gly18Val
- rs1352208816
- ClinGen CA368931561
- ClinVar RCV002299843
- Uncertain significance
- Norman-Roberts syndrome; Familial temporal lobe epilepsy 7
- Missense
- AlphaMissense 0.40
- MetaLR 0.08
- MetaSVM -0.98
- PolyPhen-2 1.00
- SIFT 0.04
- EVE 0.13
- 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)