V98I (p.Val98Ile) variant of RELN (Reelin)
V98I (p.Val98Ile) 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.
V98I (p.Val98Ile) variant details
- p.Val98Ile
- rs1795500299
- ClinGen CA368931058
- ClinVar RCV003812550
- Uncertain significance
- Norman-Roberts syndrome; Familial temporal lobe epilepsy 7
- Missense
- REVEL 0.03
- MetaLR 0.02
- MetaSVM -0.99
- CADD 10.30
- PolyPhen-2 0.00
- SIFT 0.21
- ClinVar: Uncertain significance (Norman-Roberts syndrome; Familial temporal lobe epilepsy 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Cited in: Autosomal Dominant Epilepsy with Auditory Features. (PMID 20301709)