E57Q (p.Glu57Gln) variant of BEST1 (Bestrophin-1)
E57Q (p.Glu57Gln) in BEST1 (Bestrophin-1) is a missense change. The record also includes structural context.
E57Q (p.Glu57Gln) variant details
- p.Glu57Gln
- cosmic curated COSV10511
- Missense
- Structural context available