Q59del (p.Gln59del) variant of BEST1 (Bestrophin-1)
Q59del (p.Gln59del) in BEST1 (Bestrophin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
Q59del (p.Gln59del) variant details
- rs1221728254
- gnomAD 11-61955123-GAAC-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.284
- CADD 16.40
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available