Q13Q (p.Gln13Gln) variant of CHEK1 (O14757)
Q13Q (p.Gln13Gln) in CHEK1 (O14757) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
Q13Q (p.Gln13Gln) variant details
- p.Gln13Gln
- rs968832353
- gnomAD 11-125625790-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.204
- CADD 4.70
- Most common in the East Asian population (allele frequency 0.00039)
- Structural context available
- Literature evidence available