A14S (p.Ala14Ser) variant of RELN (Reelin)
A14S (p.Ala14Ser) 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; not provided. The record also includes variant effect predictions, population frequency data, and published literature.
A14S (p.Ala14Ser) variant details
- p.Ala14Ser
- rs147551940
- ClinGen CA4422737
- ClinVar RCV001339844
- ClinVar RCV004719140
- Uncertain significance
- Norman-Roberts syndrome; Familial temporal lobe epilepsy 7; not provided
- Missense
- REVEL 0.05
- MetaLR 0.04
- MetaSVM -1.06
- CADD 22.10
- PolyPhen-2 0.01
- SIFT 0.30
- ClinVar: Uncertain significance (Norman-Roberts syndrome; Familial temporal lobe epilepsy 7; not)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.5e-06)
- Cited in: Autosomal Dominant Epilepsy with Auditory Features. (PMID 20301709)