A26V (p.Ala26Val) variant of RELN (Reelin)
A26V (p.Ala26Val) 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 specified. The record also includes variant effect predictions, population frequency data, and published literature.
A26V (p.Ala26Val) variant details
- p.Ala26Val
- rs144557847
- ClinGen CA238806
- cosmic curated COSV58987
- ClinVar RCV000173363
- Conflicting interpretations
- Norman-Roberts syndrome; Familial temporal lobe epilepsy 7; not specified
- Missense
- REVEL 0.07
- MetaLR 0.03
- MetaSVM -1.07
- CADD 23.60
- PolyPhen-2 0.01
- SIFT 0.10
- ClinVar: Conflicting classifications of pathogenicity (Norman-Roberts syndrome; Familial temporal lobe epilepsy 7; not)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Cited in: Autosomal Dominant Epilepsy with Auditory Features. (PMID 20301709)