H75R (p.His75Arg) variant of RELN (Reelin)
H75R (p.His75Arg) 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.
H75R (p.His75Arg) variant details
- p.His75Arg
- rs770570216
- ClinGen CA4422693
- ClinVar RCV001059638
- ExAC rs770570216
- Uncertain significance
- Familial temporal lobe epilepsy 7; Norman-Roberts syndrome
- Missense
- REVEL 0.18
- MetaLR 0.03
- MetaSVM -1.00
- CADD 24.90
- PolyPhen-2 0.14
- SIFT 0.00
- ClinVar: Uncertain significance (Familial temporal lobe epilepsy 7; Norman-Roberts syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 8.9e-05)
- Cited in: Autosomal Dominant Epilepsy with Auditory Features. (PMID 20301709)