S97G (p.Ser97Gly) variant of RELN (Reelin)
S97G (p.Ser97Gly) 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.
S97G (p.Ser97Gly) variant details
- p.Ser97Gly
- rs1795500406
- ClinGen CA368931065
- ClinVar RCV003797642
- TOPMed rs1795500406
- Uncertain significance
- Norman-Roberts syndrome; Familial temporal lobe epilepsy 7
- Missense
- REVEL 0.05
- MetaLR 0.03
- MetaSVM -1.07
- CADD 19.10
- PolyPhen-2 0.00
- SIFT 0.20
- ClinVar: Uncertain significance (Norman-Roberts syndrome; Familial temporal lobe epilepsy 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Cited in: Autosomal Dominant Epilepsy with Auditory Features. (PMID 20301709)