L52Q (p.Leu52Gln) variant of BEST1 (Bestrophin-1)
L52Q (p.Leu52Gln) in BEST1 (Bestrophin-1) is a missense change. The record also includes structural context.
L52Q (p.Leu52Gln) variant details
- p.Leu52Gln
- gnomAD rs925342184
- Missense
- Structural context available