R56* (p.Arg56Ter) variant of ATP6V1B1 (P15313)
R56* (p.Arg56Ter) in ATP6V1B1 (P15313) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R56* (p.Arg56Ter) variant details
- p.Arg56Ter
- gnomAD 2-70943678-G-GTGA
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.758
- CADD 25.70
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available