I78T (p.Ile78Thr) variant of RELN (Reelin)
I78T (p.Ile78Thr) 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.
I78T (p.Ile78Thr) variant details
- p.Ile78Thr
- rs1795501891
- ClinGen CA368931183
- cosmic curated COSV10740
- ClinVar RCV002815100
- Uncertain significance
- Norman-Roberts syndrome; Familial temporal lobe epilepsy 7
- Missense
- AlphaMissense 0.98
- MetaLR 0.04
- MetaSVM -1.07
- PolyPhen-2 0.32
- SIFT 0.00
- EVE 0.45
- 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)