Q9G (p.Gln9Gly) variant of CHD2 (O14647)
Q9G (p.Gln9Gly) in CHD2 (O14647) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
Q9G (p.Gln9Gly) variant details
- p.Gln9Gly
- rs772808137
- gnomAD 15-92904916-TAAAC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.18
- CADD 14.00
- Population evidence available
- Structural context available
- Literature evidence available