Y40* (p.Tyr40Ter) variant of ATP6V1A (P38606)
Y40* (p.Tyr40Ter) in ATP6V1A (P38606) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
Y40* (p.Tyr40Ter) variant details
- p.Tyr40Ter
- gnomAD 3-113781087-T-G
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.329
- CADD 35.00
- Population evidence available
- Structural context available
- Literature evidence available