Q9R (p.Gln9Arg) variant of RELN (Reelin)
Q9R (p.Gln9Arg) in RELN (Reelin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Familial temporal lobe epilepsy 7; Norman-Roberts syndrome. The record also includes variant effect predictions, population frequency data, and published literature.
Q9R (p.Gln9Arg) variant details
- p.Gln9Arg
- rs115165703
- ClinGen CA4422741
- ClinVar RCV001368450
- 1000Genomes rs115165703
- Likely benign
- Familial temporal lobe epilepsy 7; Norman-Roberts syndrome
- Missense
- REVEL 0.06
- MetaLR 0.02
- MetaSVM -0.99
- CADD 16.30
- PolyPhen-2 0.00
- SIFT 0.59
- ClinVar: Likely benign (Familial temporal lobe epilepsy 7; Norman-Roberts syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 3.4e-05)
- Cited in: Autosomal Dominant Epilepsy with Auditory Features. (PMID 20301709)