H75N (p.His75Asn) variant of RELN (Reelin)
H75N (p.His75Asn) in RELN (Reelin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign 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.
H75N (p.His75Asn) variant details
- p.His75Asn
- rs555377051
- ClinGen CA4422694
- ClinVar RCV001056156
- 1000Genomes rs555377051
- Likely benign
- Norman-Roberts syndrome; Familial temporal lobe epilepsy 7
- Missense
- REVEL 0.14
- AlphaMissense 0.10
- MetaLR 0.03
- MetaSVM -0.99
- CADD 23.60
- PolyPhen-2 0.39
- ClinVar: Likely benign (Norman-Roberts syndrome; Familial temporal lobe epilepsy 7)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:DAUR population (allele frequency 0.056)
- Cited in: Autosomal Dominant Epilepsy with Auditory Features. (PMID 20301709)