E120V (p.Glu120Val) variant of C9ORF72 (Q96LT7)
E120V (p.Glu120Val) in C9ORF72 (Q96LT7) is a missense change. The record also includes structural context.
E120V (p.Glu120Val) variant details
- p.Glu120Val
- Ensembl rs1819475858
- Missense
- Structural context available