R8W (p.Arg8Trp) variant of RELN (Reelin)
R8W (p.Arg8Trp) 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.
R8W (p.Arg8Trp) variant details
- p.Arg8Trp
- rs1470522542
- ClinGen CA368931619
- ClinVar RCV003798790
- TOPMed rs1470522542
- Uncertain significance
- Norman-Roberts syndrome; Familial temporal lobe epilepsy 7
- Missense
- REVEL 0.11
- MetaLR 0.04
- MetaSVM -1.00
- CADD 23.50
- PolyPhen-2 0.07
- SIFT 0.12
- ClinVar: Uncertain significance (Norman-Roberts syndrome; Familial temporal lobe epilepsy 7)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Cited in: Autosomal Dominant Epilepsy with Auditory Features. (PMID 20301709)