Q72E (p.Gln72Glu) variant of RELN (Reelin)
Q72E (p.Gln72Glu) in RELN (Reelin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign 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.
Q72E (p.Gln72Glu) variant details
- p.Gln72Glu
- rs775097828
- ClinGen CA4422697
- ClinVar RCV001365276
- ExAC rs775097828
- Likely benign
- Norman-Roberts syndrome; Familial temporal lobe epilepsy 7
- Missense
- REVEL 0.14
- MetaLR 0.04
- MetaSVM -1.08
- CADD 25.00
- PolyPhen-2 0.14
- SIFT 0.12
- ClinVar: Likely benign (Norman-Roberts syndrome; Familial temporal lobe epilepsy 7)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Cited in: Autosomal Dominant Epilepsy with Auditory Features. (PMID 20301709)