A23V (p.Ala23Val) variant of RELN (Reelin)
A23V (p.Ala23Val) in RELN (Reelin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign 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.
A23V (p.Ala23Val) variant details
- p.Ala23Val
- rs370745351
- ClinGen CA4422730
- cosmic curated COSV10063
- ClinVar RCV003782409
- Likely benign
- Norman-Roberts syndrome; Familial temporal lobe epilepsy 7
- Missense
- REVEL 0.02
- MetaLR 0.02
- MetaSVM -0.95
- CADD 19.50
- PolyPhen-2 0.00
- SIFT 0.55
- ClinVar: Likely benign (Norman-Roberts syndrome; Familial temporal lobe epilepsy 7)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Cited in: Autosomal Dominant Epilepsy with Auditory Features. (PMID 20301709)