A23T (p.Ala23Thr) variant of RELN (Reelin)
A23T (p.Ala23Thr) 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.
A23T (p.Ala23Thr) variant details
- p.Ala23Thr
- rs2484918249
- ClinGen CA368931541
- ClinVar RCV003093778
- Uncertain significance
- Familial temporal lobe epilepsy 7; Norman-Roberts syndrome
- Missense
- REVEL 0.03
- MetaLR 0.04
- MetaSVM -1.05
- CADD 23.50
- PolyPhen-2 0.02
- SIFT 0.36
- ClinVar: Uncertain significance (Familial temporal lobe epilepsy 7; Norman-Roberts syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Cited in: Autosomal Dominant Epilepsy with Auditory Features. (PMID 20301709)