E41* (p.Glu41Ter) variant of ATP6V1A (P38606)
E41* (p.Glu41Ter) in ATP6V1A (P38606) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
E41* (p.Glu41Ter) variant details
- p.Glu41Ter
- gnomAD 3-113781088-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.875
- CADD 40.00
- Population evidence available
- Structural context available
- Literature evidence available