E48K (p.Glu48Lys) variant of SLC8A1 (Sodium/calcium exchanger 1)
E48K (p.Glu48Lys) in SLC8A1 (Sodium/calcium exchanger 1) is a missense change. The record also includes structural context.
E48K (p.Glu48Lys) variant details
- p.Glu48Lys
- cosmic curated COSV60483
- Missense
- Structural context available