H42Y (p.His42Tyr) variant of RELN (Reelin)
H42Y (p.His42Tyr) 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.
H42Y (p.His42Tyr) variant details
- p.His42Tyr
- rs1376719484
- ClinGen CA368931424
- ClinVar RCV003781977
- TOPMed rs1376719484
- Uncertain significance
- Familial temporal lobe epilepsy 7; Norman-Roberts syndrome
- Missense
- REVEL 0.30
- MetaLR 0.08
- MetaSVM -0.99
- CADD 25.20
- PolyPhen-2 0.99
- SIFT 0.39
- ClinVar: Uncertain significance (Familial temporal lobe epilepsy 7; Norman-Roberts syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Cited in: Autosomal Dominant Epilepsy with Auditory Features. (PMID 20301709)