P65S (p.Pro65Ser) variant of RELN (Reelin)
P65S (p.Pro65Ser) in RELN (Reelin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial temporal lobe epilepsy 7; Norman-Roberts syndrome. The record also includes variant effect predictions and published literature.
P65S (p.Pro65Ser) variant details
- p.Pro65Ser
- rs1797168163
- ClinGen CA368931275
- ClinVar RCV001044206
- Ensembl rs1797168163
- Uncertain significance
- Familial temporal lobe epilepsy 7; Norman-Roberts syndrome
- Missense
- AlphaMissense 0.80
- MetaLR 0.15
- MetaSVM -0.92
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.61
- ClinVar: Uncertain significance (Familial temporal lobe epilepsy 7; Norman-Roberts syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Autosomal Dominant Epilepsy with Auditory Features. (PMID 20301709)