S58F (p.Ser58Phe) variant of RELN (Reelin)
S58F (p.Ser58Phe) 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.
S58F (p.Ser58Phe) variant details
- p.Ser58Phe
- rs1797168998
- ClinGen CA368931315
- cosmic curated COSV58984
- ClinVar RCV001360340
- Uncertain significance
- Norman-Roberts syndrome; Familial temporal lobe epilepsy 7
- Missense
- REVEL 0.26
- MetaLR 0.07
- MetaSVM -1.06
- CADD 32.00
- PolyPhen-2 0.48
- 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 1.8e-06)
- Cited in: Autosomal Dominant Epilepsy with Auditory Features. (PMID 20301709)