A25V (p.Ala25Val) variant of RELN (Reelin)
A25V (p.Ala25Val) 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.
A25V (p.Ala25Val) variant details
- p.Ala25Val
- rs757957218
- ClinGen CA4422728
- ClinVar RCV001336778
- ClinVar RCV003770865
- Uncertain significance
- Norman-Roberts syndrome; Familial temporal lobe epilepsy 7
- Missense
- REVEL 0.03
- MetaLR 0.04
- MetaSVM -1.03
- CADD 22.70
- PolyPhen-2 0.07
- SIFT 0.34
- ClinVar: Uncertain significance (Norman-Roberts syndrome; Familial temporal lobe epilepsy 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Cited in: Autosomal Dominant Epilepsy with Auditory Features. (PMID 20301709)