E57del (p.Glu57del) variant of BEST1 (Bestrophin-1)
E57del (p.Glu57del) in BEST1 (Bestrophin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
E57del (p.Glu57del) variant details
- rs1480112811
- gnomAD 11-61955119-GGAA-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.154
- CADD 10.40
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available