Q8* (p.Gln8Ter) variant of BEST1 (Bestrophin-1)
Q8* (p.Gln8Ter) in BEST1 (Bestrophin-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
Q8* (p.Gln8Ter) variant details
- p.Gln8Ter
- TOPMed rs1350856823
- gnomAD rs1350856823
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.325
- CADD 16.80
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available