E71* (p.Glu71Ter) variant of ATP6V0A4 (Q9HBG4)
E71* (p.Glu71Ter) in ATP6V0A4 (Q9HBG4) is a protein-truncating change. 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.
E71* (p.Glu71Ter) variant details
- p.Glu71Ter
- cosmic curated COSV10964
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.705
- CADD 39.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available