E47K (p.Glu47Lys) variant of RELN (Reelin)
E47K (p.Glu47Lys) in RELN (Reelin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Norman-Roberts syndrome; Familial temporal lobe epileps. The record also includes variant effect predictions, population frequency data, and published literature.
E47K (p.Glu47Lys) variant details
- p.Glu47Lys
- rs139648092
- ClinGen CA222810
- cosmic curated COSV99067
- ClinVar RCV000317927
- Conflicting interpretations
- Inborn genetic diseases; Norman-Roberts syndrome; Familial temporal lobe epileps
- Missense
- REVEL 0.05
- MetaLR 0.04
- MetaSVM -1.10
- CADD 24.50
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Norman-Roberts syndrome; Familial tempo)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 0.0009)
- 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)