Y30N (p.Tyr30Asn) variant of RELN (Reelin)
Y30N (p.Tyr30Asn) 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.
Y30N (p.Tyr30Asn) variant details
- p.Tyr30Asn
- rs764175823
- ClinGen CA368931503
- ClinVar RCV001038886
- ClinVar RCV004958373
- Uncertain significance
- Norman-Roberts syndrome; Familial temporal lobe epilepsy 7; Inborn genetic disea
- Missense
- REVEL 0.12
- MetaLR 0.04
- MetaSVM -1.08
- CADD 25.30
- PolyPhen-2 0.06
- SIFT 0.01
- ClinVar: Uncertain significance (Norman-Roberts syndrome; Familial temporal lobe epilepsy 7; Inbo)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)