T10S (p.Thr10Ser) variant of RELN (Reelin)
T10S (p.Thr10Ser) 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.
T10S (p.Thr10Ser) variant details
- p.Thr10Ser
- rs1584425962
- ClinGen CA368931608
- ClinVar RCV001245987
- gnomAD rs1584425962
- Uncertain significance
- Norman-Roberts syndrome; Familial temporal lobe epilepsy 7
- Missense
- REVEL 0.05
- MetaLR 0.04
- MetaSVM -1.05
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.49
- 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 1.5e-05)
- Cited in: Autosomal Dominant Epilepsy with Auditory Features. (PMID 20301709)