Y30H (p.Tyr30His) variant of RELN (Reelin)
Y30H (p.Tyr30His) 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 and population frequency data.
Y30H (p.Tyr30His) variant details
- p.Tyr30His
- ExAC rs764175823
- TOPMed rs764175823
- gnomAD rs764175823
- Uncertain significance
- Familial temporal lobe epilepsy 7; Norman-Roberts syndrome
- Missense
- REVEL 0.13
- MetaLR 0.04
- MetaSVM -1.08
- CADD 23.90
- PolyPhen-2 0.19
- SIFT 0.04
- ClinVar: Uncertain significance (Familial temporal lobe epilepsy 7; Norman-Roberts syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)