Y5* (p.Tyr5Ter) variant of BEST1 (Bestrophin-1)
Y5* (p.Tyr5Ter) in BEST1 (Bestrophin-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
Y5* (p.Tyr5Ter) variant details
- p.Tyr5Ter
- gnomAD 11-61951821-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.435
- CADD 20.70
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available