Q111* (p.Gln111Ter) variant of CHD8 (Q9HCK8)
Q111* (p.Gln111Ter) in CHD8 (Q9HCK8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data.
Q111* (p.Gln111Ter) variant details
- p.Gln111Ter
- Ensembl rs1555318679
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.85
- CADD 36.00
- Most common in the REMAINING population (allele frequency 1.7e-05)