V69I (p.Val69Ile) variant of RELN (Reelin)
V69I (p.Val69Ile) 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.
V69I (p.Val69Ile) variant details
- p.Val69Ile
- rs2484917656
- ClinGen CA368931253
- ClinVar RCV002303806
- Uncertain significance
- Norman-Roberts syndrome; Familial temporal lobe epilepsy 7
- Missense
- REVEL 0.06
- MetaLR 0.05
- MetaSVM -1.08
- CADD 22.80
- PolyPhen-2 0.34
- SIFT 0.30
- ClinVar: Uncertain significance (Norman-Roberts syndrome; Familial temporal lobe epilepsy 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Cited in: Autosomal Dominant Epilepsy with Auditory Features. (PMID 20301709)