Q8del (p.Gln8del) variant of BEST1 (Bestrophin-1)
Q8del (p.Gln8del) in BEST1 (Bestrophin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
Q8del (p.Gln8del) variant details
- gnomAD 11-61951827-CCAA-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.571
- CADD 16.80
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available