T96A (p.Thr96Ala) variant of RELN (Reelin)
T96A (p.Thr96Ala) 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.
T96A (p.Thr96Ala) variant details
- p.Thr96Ala
- rs564088219
- ClinGen CA164029205
- ClinVar RCV001319644
- 1000Genomes rs564088219
- Uncertain significance
- Familial temporal lobe epilepsy 7; Norman-Roberts syndrome
- Missense
- REVEL 0.16
- MetaLR 0.06
- MetaSVM -1.02
- CADD 24.00
- PolyPhen-2 0.97
- SIFT 0.12
- ClinVar: Uncertain significance (Familial temporal lobe epilepsy 7; Norman-Roberts syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:SARDINIAN population (allele frequency 0.037)
- Cited in: Autosomal Dominant Epilepsy with Auditory Features. (PMID 20301709)