V89L (p.Val89Leu) variant of RELN (Reelin)
V89L (p.Val89Leu) 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.
V89L (p.Val89Leu) variant details
- p.Val89Leu
- rs778154915
- ClinGen CA368931113
- ClinVar RCV001046902
- ExAC rs778154915
- Uncertain significance
- Familial temporal lobe epilepsy 7; Norman-Roberts syndrome
- Missense
- REVEL 0.19
- MetaLR 0.05
- MetaSVM -0.83
- CADD 22.60
- PolyPhen-2 0.94
- SIFT 0.32
- ClinVar: Uncertain significance (Familial temporal lobe epilepsy 7; Norman-Roberts syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Cited in: Autosomal Dominant Epilepsy with Auditory Features. (PMID 20301709)