H60R (p.His60Arg) variant of RELN (Reelin)
H60R (p.His60Arg) 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.
H60R (p.His60Arg) variant details
- p.His60Arg
- rs1584425634
- ClinGen CA368931305
- ClinVar RCV000812208
- Ensembl rs1584425634
- Uncertain significance
- Familial temporal lobe epilepsy 7; Norman-Roberts syndrome
- Missense
- REVEL 0.20
- MetaLR 0.03
- MetaSVM -1.01
- CADD 23.20
- SIFT 0.13
- ClinVar: Uncertain significance (Familial temporal lobe epilepsy 7; Norman-Roberts syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.026)
- Cited in: Autosomal Dominant Epilepsy with Auditory Features. (PMID 20301709)