A62V (p.Ala62Val) variant of RELN (Reelin)
A62V (p.Ala62Val) in RELN (Reelin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Norman-Roberts syndrome; Familial temporal lobe epilepsy 7; not provided. The record also includes variant effect predictions, population frequency data, and published literature.
A62V (p.Ala62Val) variant details
- p.Ala62Val
- rs756018749
- ClinGen CA4422707
- ClinVar RCV000432487
- ClinVar RCV001865400
- Conflicting interpretations
- Norman-Roberts syndrome; Familial temporal lobe epilepsy 7; not provided
- Missense
- REVEL 0.29
- MetaLR 0.05
- MetaSVM -1.08
- CADD 23.80
- PolyPhen-2 0.21
- SIFT 0.26
- ClinVar: Conflicting classifications of pathogenicity (Norman-Roberts syndrome; Familial temporal lobe epilepsy 7; not)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Cited in: Autosomal Dominant Epilepsy with Auditory Features. (PMID 20301709)