R8Q (p.Arg8Gln) variant of RELN (Reelin)
R8Q (p.Arg8Gln) in RELN (Reelin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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.
R8Q (p.Arg8Gln) variant details
- p.Arg8Gln
- rs765261158
- ClinGen CA4422742
- cosmic curated COSV58987
- ClinVar RCV001162132
- Conflicting interpretations
- Norman-Roberts syndrome; Familial temporal lobe epilepsy 7
- Missense
- REVEL 0.06
- MetaLR 0.04
- MetaSVM -1.01
- CADD 21.50
- PolyPhen-2 0.01
- SIFT 0.47
- ClinVar: Conflicting classifications of pathogenicity (Norman-Roberts syndrome; Familial temporal lobe epilepsy 7)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 8.6e-05)
- Cited in: Autosomal Dominant Epilepsy with Auditory Features. (PMID 20301709)