Q24* (p.Gln24Ter) variant of CHEK1 (O14757)
Q24* (p.Gln24Ter) in CHEK1 (O14757) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
Q24* (p.Gln24Ter) variant details
- p.Gln24Ter
- rs777220059
- gnomAD 11-125625881-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.321
- CADD 34.00
- Most common in the South Asian population (allele frequency 3.2e-05)
- Structural context available
- Literature evidence available