I78V (p.Ile78Val) variant of RELN (Reelin)
I78V (p.Ile78Val) 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.
I78V (p.Ile78Val) variant details
- p.Ile78Val
- rs768499951
- ClinGen CA4422646
- ClinVar RCV001065267
- ExAC rs768499951
- Uncertain significance
- Norman-Roberts syndrome; Familial temporal lobe epilepsy 7
- Missense
- REVEL 0.06
- MetaLR 0.04
- MetaSVM -1.06
- CADD 21.40
- PolyPhen-2 0.00
- SIFT 0.35
- 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 6.6e-05)
- Cited in: Autosomal Dominant Epilepsy with Auditory Features. (PMID 20301709)