R22K (p.Arg22Lys) variant of RELN (Reelin)
R22K (p.Arg22Lys) in RELN (Reelin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial temporal lobe epilepsy 7; Norman-Roberts syndrome. The record also includes variant effect predictions, population frequency data, and published literature.
R22K (p.Arg22Lys) variant details
- p.Arg22Lys
- rs139532757
- ClinGen CA164084536
- ClinVar RCV001300053
- ClinVar RCV003485704
- Conflicting interpretations
- Familial temporal lobe epilepsy 7; Norman-Roberts syndrome
- Missense
- REVEL 0.06
- MetaLR 0.03
- MetaSVM -1.02
- CADD 20.20
- PolyPhen-2 0.00
- SIFT 0.94
- ClinVar: Conflicting classifications of pathogenicity (Familial temporal lobe epilepsy 7; Norman-Roberts syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 5e-05)
- Cited in: Autosomal Dominant Epilepsy with Auditory Features. (PMID 20301709)