P70T (p.Pro70Thr) variant of RELN (Reelin)
P70T (p.Pro70Thr) 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. The record also includes variant effect predictions, population frequency data, and published literature.
P70T (p.Pro70Thr) variant details
- p.Pro70Thr
- rs773680003
- ClinGen CA4422700
- ClinVar RCV001216705
- ExAC rs773680003
- Uncertain significance
- Norman-Roberts syndrome; Familial temporal lobe epilepsy 7
- Missense
- REVEL 0.36
- MetaLR 0.25
- MetaSVM -0.59
- CADD 31.00
- PolyPhen-2 0.48
- SIFT 0.00
- ClinVar: Uncertain significance (Norman-Roberts syndrome; Familial temporal lobe epilepsy 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Cited in: Autosomal Dominant Epilepsy with Auditory Features. (PMID 20301709)