G34W (p.Gly34Trp) variant of CHD2 (O14647)
G34W (p.Gly34Trp) in CHD2 (O14647) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
G34W (p.Gly34Trp) variant details
- p.Gly34Trp
- rs769211092
- gnomAD 15-92901330-C-CT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.485
- CADD 12.60
- Most common in the Latino/Admixed American population (allele frequency 0.0013)
- Structural context available
- Literature evidence available