Q59* (p.Gln59Ter) variant of KRIT1 (O00522)
Q59* (p.Gln59Ter) in KRIT1 (O00522) is a protein-truncating change. 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.
Q59* (p.Gln59Ter) variant details
- p.Gln59Ter
- gnomAD rs1192358468
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.745
- CADD 36.00
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- Structural context available