T82N (p.Thr82Asn) variant of RELN (Reelin)
T82N (p.Thr82Asn) 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.
T82N (p.Thr82Asn) variant details
- p.Thr82Asn
- rs368049573
- ClinGen CA368931155
- ClinVar RCV001300498
- ESP rs368049573
- Uncertain significance
- Familial temporal lobe epilepsy 7; Norman-Roberts syndrome
- Missense
- REVEL 0.23
- MetaLR 0.10
- MetaSVM -0.96
- CADD 25.90
- PolyPhen-2 0.99
- SIFT 0.09
- ClinVar: Uncertain significance (Familial temporal lobe epilepsy 7; Norman-Roberts syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Cited in: Autosomal Dominant Epilepsy with Auditory Features. (PMID 20301709)