A19V (p.Ala19Val) variant of RELN (Reelin)
A19V (p.Ala19Val) in RELN (Reelin) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Familial temporal lobe epilepsy 7; Norman-Roberts syndrome. The record also includes variant effect predictions and population frequency data.
A19V (p.Ala19Val) variant details
- p.Ala19Val
- cosmic curated COSV59005
- 1000Genomes rs557229008
- ExAC rs557229008
- gnomAD rs557229008
- Likely benign
- Familial temporal lobe epilepsy 7; Norman-Roberts syndrome
- Missense
- REVEL 0.15
- MetaLR 0.09
- MetaSVM -1.05
- CADD 29.10
- PolyPhen-2 0.94
- SIFT 0.55
- ClinVar: Likely benign (Familial temporal lobe epilepsy 7; Norman-Roberts syndrome)
- UniProt: Likely benign
- Most common in the 1KG:CHS population (allele frequency 0.0049)