M1V (p.Met1Val) variant of RELN (Reelin)
M1V (p.Met1Val) 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.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs1218893617
- ClinGen CA368931665
- ClinVar RCV001984604
- Uncertain significance
- Familial temporal lobe epilepsy 7; Norman-Roberts syndrome
- Missense
- MetaLR 0.04
- MetaSVM -1.10
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 0.99
- 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)