A19S (p.Ala19Ser) variant of RELN (Reelin)
A19S (p.Ala19Ser) 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.
A19S (p.Ala19Ser) variant details
- p.Ala19Ser
- rs774554247
- ClinGen CA4422736
- cosmic curated COSV59042
- ClinVar RCV003780074
- Uncertain significance
- Norman-Roberts syndrome; Familial temporal lobe epilepsy 7
- Missense
- AlphaMissense 0.11
- MetaLR 0.07
- MetaSVM -1.06
- PolyPhen-2 0.98
- SIFT 0.29
- EVE 0.05
- ClinVar: Uncertain significance (Norman-Roberts syndrome; Familial temporal lobe epilepsy 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Cited in: Autosomal Dominant Epilepsy with Auditory Features. (PMID 20301709)