Y50Y (p.Tyr50Tyr) variant of BEST1 (Bestrophin-1)
Y50Y (p.Tyr50Tyr) 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.
Y50Y (p.Tyr50Tyr) variant details
- p.Tyr50Tyr
- rs763141918
- gnomAD 11-61951956-T-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.0923
- CADD 1.64
- Population evidence available
- Structural context available
- Literature evidence available