E2G (p.Glu2Gly) variant of RELN (Reelin)
E2G (p.Glu2Gly) 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.
E2G (p.Glu2Gly) variant details
- p.Glu2Gly
- rs751188993
- ClinGen CA4422746
- ClinVar RCV002636962
- ExAC rs751188993
- Uncertain significance
- Norman-Roberts syndrome; Familial temporal lobe epilepsy 7
- Missense
- REVEL 0.03
- MetaLR 0.04
- MetaSVM -1.05
- CADD 23.80
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Uncertain significance (Norman-Roberts syndrome; Familial temporal lobe epilepsy 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00042)
- Cited in: Autosomal Dominant Epilepsy with Auditory Features. (PMID 20301709)