A14G (p.Ala14Gly) variant of RELN (Reelin)
A14G (p.Ala14Gly) in RELN (Reelin) is a missense change. Clinical records from ClinVar 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 and population frequency data.
A14G (p.Ala14Gly) variant details
- p.Ala14Gly
- TOPMed rs1224049310
- gnomAD rs1224049310
- Uncertain significance
- Familial temporal lobe epilepsy 7; Norman-Roberts syndrome
- Missense
- REVEL 0.06
- MetaLR 0.03
- MetaSVM -1.02
- CADD 21.80
- SIFT 0.12
- ClinVar: Uncertain significance (Familial temporal lobe epilepsy 7; Norman-Roberts syndrome)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)