Y33Y (p.Tyr33Tyr) variant of BEST1 (Bestrophin-1)
Y33Y (p.Tyr33Tyr) in BEST1 (Bestrophin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
Y33Y (p.Tyr33Tyr) variant details
- p.Tyr33Tyr
- rs373950010
- gnomAD 11-61951905-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.107
- CADD 3.68
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- Structural context available
- Literature evidence available