E2K (p.Glu2Lys) variant of FMR1 (Q06787)
E2K (p.Glu2Lys) in FMR1 (Q06787) is a missense change. The record also includes experimental measurements and structural context.
E2K (p.Glu2Lys) variant details
- p.Glu2Lys
- Ensembl rs2042610275
- Missense
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score 0.0339