A27T (p.Ala27Thr) variant of RELN (Reelin)
A27T (p.Ala27Thr) 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.
A27T (p.Ala27Thr) variant details
- p.Ala27Thr
- rs2116860341
- ClinGen CA368931521
- ClinVar RCV001989313
- Ensembl rs2116860341
- Uncertain significance
- Norman-Roberts syndrome; Familial temporal lobe epilepsy 7
- Missense
- REVEL 0.04
- MetaLR 0.03
- MetaSVM -1.00
- CADD 21.00
- PolyPhen-2 0.01
- SIFT 0.10
- ClinVar: Uncertain significance (Norman-Roberts syndrome; Familial temporal lobe epilepsy 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Cited in: Autosomal Dominant Epilepsy with Auditory Features. (PMID 20301709)