T82I (p.Thr82Ile) variant of RELN (Reelin)
T82I (p.Thr82Ile) in RELN (Reelin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign 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.
T82I (p.Thr82Ile) variant details
- p.Thr82Ile
- rs368049573
- ClinGen CA4422645
- cosmic curated COSV59016
- ClinVar RCV001309004
- Likely benign
- Norman-Roberts syndrome; Familial temporal lobe epilepsy 7
- Missense
- REVEL 0.31
- MetaLR 0.10
- MetaSVM -0.96
- CADD 24.40
- PolyPhen-2 0.99
- SIFT 0.04
- ClinVar: Likely benign (Norman-Roberts syndrome; Familial temporal lobe epilepsy 7)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00012)
- Cited in: Autosomal Dominant Epilepsy with Auditory Features. (PMID 20301709)