R22M (p.Arg22Met) variant of RELN (Reelin)
R22M (p.Arg22Met) 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; Inborn genetic disea. The record also includes variant effect predictions, population frequency data, and published literature.
R22M (p.Arg22Met) variant details
- p.Arg22Met
- rs139532757
- ClinGen CA4422731
- ClinVar RCV001065378
- ClinVar RCV001557478
- Uncertain significance
- Norman-Roberts syndrome; Familial temporal lobe epilepsy 7; Inborn genetic disea
- Missense
- REVEL 0.08
- MetaLR 0.04
- MetaSVM -1.04
- CADD 23.00
- PolyPhen-2 0.09
- SIFT 0.24
- ClinVar: Uncertain significance (Norman-Roberts syndrome; Familial temporal lobe epilepsy 7; Inbo)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 7.4e-05)
- Cited in: Autosomal Dominant Epilepsy with Auditory Features. (PMID 20301709)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)