W24* (p.Trp24Ter) variant of BEST1 (Bestrophin-1)
W24* (p.Trp24Ter) 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 0.70 / 1. The record also includes population frequency data and structural context.
W24* (p.Trp24Ter) variant details
- p.Trp24Ter
- gnomAD rs1402176267
- Pathogenic
- in VMD2
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.7
- CADD 22.50
- EBI: Pathogenic (in VMD2)
- UniProt: Pathogenic (in VMD2)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available