T20M (p.Thr20Met) variant of RELN (Reelin)
T20M (p.Thr20Met) in RELN (Reelin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial temporal lobe epilepsy 7; Norman-Roberts syndrome; not provided. The record also includes variant effect predictions, population frequency data, and published literature.
T20M (p.Thr20Met) variant details
- p.Thr20Met
- rs145135688
- ClinGen CA4422734
- cosmic curated COSV10063
- ClinVar RCV000653030
- Conflicting interpretations
- Familial temporal lobe epilepsy 7; Norman-Roberts syndrome; not provided
- Missense
- REVEL 0.04
- MetaLR 0.03
- MetaSVM -1.05
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.27
- ClinVar: Conflicting classifications of pathogenicity (Familial temporal lobe epilepsy 7; Norman-Roberts syndrome; not)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Cited in: Autosomal Dominant Epilepsy with Auditory Features. (PMID 20301709)