E3176K (p.Glu3176Lys) variant of RELN (Reelin)
E3176K (p.Glu3176Lys) in RELN (Reelin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Familial temporal lobe epilepsy 7. The record also includes variant effect predictions and published literature.
E3176K (p.Glu3176Lys) variant details
- p.Glu3176Lys
- rs794727999
- ClinGen CA346900
- ClinVar RCV000180788
- UniProt VAR 073868
- Pathogenic
- Familial temporal lobe epilepsy 7
- Missense
- AlphaMissense 0.29
- MetaLR 0.14
- MetaSVM -0.92
- PolyPhen-2 0.95
- SIFT 0.01
- EVE 0.27
- ClinVar: Pathogenic (Familial temporal lobe epilepsy 7)
- EBI: Pathogenic (in ETL7)
- UniProt: Pathogenic (in ETL7)
- Cited in: Heterozygous reelin mutations cause autosomal-dominant lateral temporal epilepsy. (PMID 26046367)
- Cited in: Autosomal Dominant Epilepsy with Auditory Features. (PMID 20301709)