Y29* (p.Tyr29Ter) variant of BEST1 (Bestrophin-1)
Y29* (p.Tyr29Ter) in BEST1 (Bestrophin-1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in VMD2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
Y29* (p.Tyr29Ter) variant details
- p.Tyr29Ter
- rs121918285
- ClinGen CA252409
- ClinVar RCV000002849
- ClinVar RCV001851591
- Pathogenic
- in VMD2
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.309
- CADD 17.90
- EBI: Pathogenic (in VMD2)
- UniProt: Pathogenic (in VMD2)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Variant phenotype of Best vitelliform macular dystrophy associated with compound heterozygous mutations in VMD2. (PMID 16754206)
- Cited in: Bestrophinopathies. (PMID 20301346)