Q30* (p.Gln30Ter) variant of CHD8 (Q9HCK8)
Q30* (p.Gln30Ter) in CHD8 (Q9HCK8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data.
Q30* (p.Gln30Ter) variant details
- p.Gln30Ter
- Ensembl rs1555318743
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.84
- CADD 35.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)