Y23* (p.Tyr23Ter) variant of ATP6V0A4 (Q9HBG4)
Y23* (p.Tyr23Ter) in ATP6V0A4 (Q9HBG4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
Y23* (p.Tyr23Ter) variant details
- p.Tyr23Ter
- TOPMed rs1335174688
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.293
- CADD 30.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available