Y44Y (p.Tyr44Tyr) variant of BEST1 (Bestrophin-1)
Y44Y (p.Tyr44Tyr) in BEST1 (Bestrophin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
Y44Y (p.Tyr44Tyr) variant details
- p.Tyr44Tyr
- rs201476918
- gnomAD 11-61951938-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.201
- CADD 11.40
- Population evidence available
- Structural context available
- Literature evidence available