E54* (p.Glu54Ter) variant of ATP6V0A4 (Q9HBG4)

Name: ATP6V0A4 E54* (p.Glu54Ter) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-10-09
License: https://catvariant.com/terms-of-use

E54* (p.Glu54Ter) in ATP6V0A4 (Q9HBG4) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.

E54* (p.Glu54Ter) variant details

p.Glu54Ter
rs756176052
1000Genomes rs756176052
ExAC rs756176052
gnomAD rs756176052
Variant assessed as somatic; high impact.
Stop Gained
Variant Prioritization Score for Impact Estimate 0.866
CADD 38.00
UniProt: Variant assessed as somatic; high impact.
Population evidence available
Structural context available