G63C (p.Gly63Cys) variant of RELN (Reelin)
G63C (p.Gly63Cys) 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.
G63C (p.Gly63Cys) variant details
- p.Gly63Cys
- rs752841369
- ClinGen CA4422706
- ClinVar RCV002711206
- ExAC rs752841369
- Uncertain significance
- Norman-Roberts syndrome; Familial temporal lobe epilepsy 7
- Missense
- AlphaMissense 0.18
- MetaLR 0.17
- MetaSVM -0.80
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.55
- ClinVar: Uncertain significance (Norman-Roberts syndrome; Familial temporal lobe epilepsy 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Cited in: Autosomal Dominant Epilepsy with Auditory Features. (PMID 20301709)