L21P (p.Leu21Pro) variant of RELN (Reelin)
L21P (p.Leu21Pro) 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.
L21P (p.Leu21Pro) variant details
- p.Leu21Pro
- rs1584425842
- ClinGen CA368931547
- ClinVar RCV003784473
- Ensembl rs1584425842
- Uncertain significance
- Norman-Roberts syndrome; Familial temporal lobe epilepsy 7
- Missense
- REVEL 0.24
- MetaLR 0.05
- MetaSVM -1.11
- CADD 23.80
- PolyPhen-2 0.25
- SIFT 0.20
- ClinVar: Uncertain significance (Norman-Roberts syndrome; Familial temporal lobe epilepsy 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 7.6e-05)
- Cited in: Autosomal Dominant Epilepsy with Auditory Features. (PMID 20301709)