K48E (p.Lys48Glu) variant of CASQ2 (Calsequestrin-2)
K48E (p.Lys48Glu) in CASQ2 (Calsequestrin-2) is a missense change. The record also includes structural context.
K48E (p.Lys48Glu) variant details
- p.Lys48Glu
- Ensembl rs1649202878
- Missense
- Structural context available