L19* (p.Leu19Ter) variant of ATP6V1B1 (P15313)
L19* (p.Leu19Ter) in ATP6V1B1 (P15313) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
L19* (p.Leu19Ter) variant details
- p.Leu19Ter
- gnomAD 2-70936007-AC-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.349
- CADD 14.90
- Population evidence available
- Structural context available
- Literature evidence available