T10A (p.Thr10Ala) variant of RELN (Reelin)
T10A (p.Thr10Ala) 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.
T10A (p.Thr10Ala) variant details
- p.Thr10Ala
- rs1584425962
- ClinGen CA368931609
- ClinVar RCV002958541
- gnomAD rs1584425962
- Uncertain significance
- Norman-Roberts syndrome; Familial temporal lobe epilepsy 7
- Missense
- REVEL 0.02
- MetaLR 0.03
- MetaSVM -1.02
- CADD 21.60
- PolyPhen-2 0.00
- SIFT 0.55
- ClinVar: Uncertain significance (Norman-Roberts syndrome; Familial temporal lobe epilepsy 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Cited in: Autosomal Dominant Epilepsy with Auditory Features. (PMID 20301709)