N64S (p.Asn64Ser) variant of RELN (Reelin)
N64S (p.Asn64Ser) 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.
N64S (p.Asn64Ser) variant details
- p.Asn64Ser
- rs759805907
- ClinGen CA4422704
- ClinVar RCV003806050
- ExAC rs759805907
- Uncertain significance
- Familial temporal lobe epilepsy 7; Norman-Roberts syndrome
- Missense
- REVEL 0.03
- MetaLR 0.04
- MetaSVM -1.10
- CADD 20.70
- PolyPhen-2 0.00
- SIFT 0.27
- ClinVar: Uncertain significance (Familial temporal lobe epilepsy 7; Norman-Roberts syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Cited in: Autosomal Dominant Epilepsy with Auditory Features. (PMID 20301709)