Q26* (p.Gln26Ter) variant of KIT (P10721)
Q26* (p.Gln26Ter) in KIT (P10721) 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 0.74 / 1. The record also includes population frequency data and structural context.
Q26* (p.Gln26Ter) variant details
- p.Gln26Ter
- ExAC rs759129060
- TOPMed rs759129060
- gnomAD rs759129060
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.744
- CADD 36.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available