A14T (p.Ala14Thr) variant of RELN (Reelin)
A14T (p.Ala14Thr) in RELN (Reelin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial temporal lobe epilepsy 7; Norman-Roberts syndrome. The record also includes variant effect predictions, population frequency data, and published literature.
A14T (p.Ala14Thr) variant details
- p.Ala14Thr
- rs147551940
- ClinGen CA4422738
- ClinVar RCV001302592
- ESP rs147551940
- Uncertain significance
- Familial temporal lobe epilepsy 7; Norman-Roberts syndrome
- Missense
- REVEL 0.05
- MetaLR 0.04
- MetaSVM -1.07
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.06
- ClinVar: Uncertain significance (Familial temporal lobe epilepsy 7; Norman-Roberts syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.9e-05)
- Cited in: Autosomal Dominant Epilepsy with Auditory Features. (PMID 20301709)