N1931D (p.Asn1931Asp) variant of RELN (Reelin)
N1931D (p.Asn1931Asp) in RELN (Reelin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Self-limited epilepsy with centrotemporal spikes. The record also includes variant effect predictions and population frequency data.
N1931D (p.Asn1931Asp) variant details
- p.Asn1931Asp
- rs369993428
- ClinGen CA4421115
- ClinVar RCV000656000
- ESP rs369993428
- Pathogenic
- Self-limited epilepsy with centrotemporal spikes
- Missense
- REVEL 0.13
- MetaLR 0.16
- MetaSVM -0.92
- CADD 23.30
- PolyPhen-2 0.14
- SIFT 0.01
- ClinVar: Pathogenic (Self-limited epilepsy with centrotemporal spikes)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)