H75L (p.His75Leu) variant of RELN (Reelin)
H75L (p.His75Leu) 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.
H75L (p.His75Leu) variant details
- p.His75Leu
- rs770570216
- ClinGen CA368931215
- ClinVar RCV001892914
- ExAC rs770570216
- Uncertain significance
- Norman-Roberts syndrome; Familial temporal lobe epilepsy 7
- Missense
- REVEL 0.14
- MetaLR 0.04
- MetaSVM -1.08
- CADD 32.00
- PolyPhen-2 0.26
- SIFT 0.00
- 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 4.4e-05)
- Cited in: Autosomal Dominant Epilepsy with Auditory Features. (PMID 20301709)