F11C (p.Phe11Cys) variant of RELN (Reelin)
F11C (p.Phe11Cys) in RELN (Reelin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Norman-Roberts syndrome; Familial temporal lobe epilepsy 7. The record also includes variant effect predictions, population frequency data, and published literature.
F11C (p.Phe11Cys) variant details
- p.Phe11Cys
- rs764120718
- ClinGen CA207022
- ClinVar RCV000193495
- ClinVar RCV002517125
- Uncertain significance
- not specified; Norman-Roberts syndrome; Familial temporal lobe epilepsy 7
- Missense
- REVEL 0.05
- MetaLR 0.03
- MetaSVM -1.02
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Uncertain significance (not specified; Norman-Roberts syndrome; Familial temporal lobe e)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00073)
- Cited in: Autosomal Dominant Epilepsy with Auditory Features. (PMID 20301709)