R56* (p.Arg56Ter) variant of ATP6V1A (P38606)
R56* (p.Arg56Ter) in ATP6V1A (P38606) 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 0.69 / 1. The record also includes population frequency data and structural context.
R56* (p.Arg56Ter) variant details
- p.Arg56Ter
- NCI-TCGA Cosmic COSV5636
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.692
- CADD 38.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available