R3L (p.Arg3Leu) variant of RELN (Reelin)
R3L (p.Arg3Leu) in RELN (Reelin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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.
R3L (p.Arg3Leu) variant details
- p.Arg3Leu
- rs2116860662
- ClinGen CA368931647
- cosmic curated COSV10740
- ClinVar RCV002008009
- Uncertain significance
- Familial temporal lobe epilepsy 7; Norman-Roberts syndrome
- Missense
- REVEL 0.11
- MetaLR 0.04
- MetaSVM -1.04
- CADD 24.10
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Uncertain significance (Familial temporal lobe epilepsy 7; Norman-Roberts syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Cited in: Autosomal Dominant Epilepsy with Auditory Features. (PMID 20301709)