Q59* (p.Gln59Ter) variant of ANKRD1 (Q15327)
Q59* (p.Gln59Ter) in ANKRD1 (Q15327) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
Q59* (p.Gln59Ter) variant details
- p.Gln59Ter
- rs1057521825
- ClinGen CA377553442
- ClinVar RCV002401645
- TOPMed rs1057521825
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.637
- CADD 38.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available