Y29Y (p.Tyr29Tyr) variant of BEST1 (Bestrophin-1)
Y29Y (p.Tyr29Tyr) in BEST1 (Bestrophin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
Y29Y (p.Tyr29Tyr) variant details
- p.Tyr29Tyr
- rs121918285
- gnomAD 11-61951893-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.319
- CADD 19.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Variant phenotype of Best vitelliform macular dystrophy associated with compound heterozygous mutations in VMD2. (PMID 16754206)