P31L (p.Pro31Leu) variant of RELN (Reelin)
P31L (p.Pro31Leu) 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.
P31L (p.Pro31Leu) variant details
- p.Pro31Leu
- rs759623259
- ClinGen CA4422721
- ClinVar RCV001340256
- ExAC rs759623259
- Uncertain significance
- Norman-Roberts syndrome; Familial temporal lobe epilepsy 7
- Missense
- REVEL 0.36
- MetaLR 0.11
- MetaSVM -0.88
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.05
- ClinVar: Uncertain significance (Norman-Roberts syndrome; Familial temporal lobe epilepsy 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Cited in: Autosomal Dominant Epilepsy with Auditory Features. (PMID 20301709)