F38Y (p.Phe38Tyr) variant of RELN (Reelin)
F38Y (p.Phe38Tyr) 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.
F38Y (p.Phe38Tyr) variant details
- p.Phe38Tyr
- rs149715692
- ClinGen CA4422715
- ClinVar RCV000377477
- ClinVar RCV001039282
- Uncertain significance
- Norman-Roberts syndrome; Familial temporal lobe epilepsy 7; Inborn genetic disea
- Missense
- REVEL 0.27
- MetaLR 0.10
- MetaSVM -0.96
- CADD 32.00
- PolyPhen-2 0.90
- SIFT 0.04
- ClinVar: Uncertain significance (Norman-Roberts syndrome; Familial temporal lobe epilepsy 7; Inbo)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00023)
- 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)