H43N (p.His43Asn) variant of RELN (Reelin)
H43N (p.His43Asn) 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.
H43N (p.His43Asn) variant details
- p.His43Asn
- rs369522512
- ClinGen CA4422713
- ClinVar RCV000689982
- ESP rs369522512
- Uncertain significance
- Norman-Roberts syndrome; Familial temporal lobe epilepsy 7
- Missense
- REVEL 0.27
- MetaLR 0.10
- MetaSVM -0.98
- CADD 29.50
- PolyPhen-2 0.98
- SIFT 0.11
- 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 2.9e-05)
- Cited in: Autosomal Dominant Epilepsy with Auditory Features. (PMID 20301709)