Y50* (p.Tyr50Ter) variant of BEST1 (Bestrophin-1)
Y50* (p.Tyr50Ter) in BEST1 (Bestrophin-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
Y50* (p.Tyr50Ter) variant details
- p.Tyr50Ter
- gnomAD 11-61951956-T-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.0908
- CADD 1.43
- Population evidence available
- Structural context available
- Literature evidence available