L59P (p.Leu59Pro) variant of RELN (Reelin)
L59P (p.Leu59Pro) in RELN (Reelin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign 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.
L59P (p.Leu59Pro) variant details
- p.Leu59Pro
- rs1466636409
- ClinGen CA368931311
- ClinVar RCV001870099
- gnomAD rs1466636409
- Likely benign
- Norman-Roberts syndrome; Familial temporal lobe epilepsy 7
- Missense
- REVEL 0.57
- MetaLR 0.19
- MetaSVM -0.75
- CADD 32.00
- SIFT 0.00
- ClinVar: Likely benign (Norman-Roberts syndrome; Familial temporal lobe epilepsy 7)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Cited in: Autosomal Dominant Epilepsy with Auditory Features. (PMID 20301709)