R8G (p.Arg8Gly) variant of RELN (Reelin)
R8G (p.Arg8Gly) in RELN (Reelin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign 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.
R8G (p.Arg8Gly) variant details
- p.Arg8Gly
- rs1470522542
- ClinGen CA368931620
- ClinVar RCV000557579
- TOPMed rs1470522542
- Likely benign
- Norman-Roberts syndrome; Familial temporal lobe epilepsy 7
- Missense
- REVEL 0.08
- MetaLR 0.05
- MetaSVM -0.98
- CADD 20.70
- PolyPhen-2 0.00
- SIFT 0.28
- ClinVar: Likely benign (Norman-Roberts syndrome; Familial temporal lobe epilepsy 7)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Cited in: Autosomal Dominant Epilepsy with Auditory Features. (PMID 20301709)