E57K (p.Glu57Lys) variant of BEST1 (Bestrophin-1)
E57K (p.Glu57Lys) in BEST1 (Bestrophin-1) is a missense change. The record also includes structural context.
E57K (p.Glu57Lys) variant details
- p.Glu57Lys
- cosmic curated COSV10511
- Missense
- Structural context available