V55M (p.Val55Met) variant of RELN (Reelin)
V55M (p.Val55Met) 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.
V55M (p.Val55Met) variant details
- p.Val55Met
- rs753619762
- ClinGen CA368931336
- ClinVar RCV001294460
- ExAC rs753619762
- Uncertain significance
- Norman-Roberts syndrome; Familial temporal lobe epilepsy 7
- Missense
- REVEL 0.33
- MetaLR 0.10
- MetaSVM -0.96
- CADD 29.00
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (Norman-Roberts syndrome; Familial temporal lobe epilepsy 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Cited in: Autosomal Dominant Epilepsy with Auditory Features. (PMID 20301709)