G34E (p.Gly34Glu) variant of CHD2 (O14647)
G34E (p.Gly34Glu) in CHD2 (O14647) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
G34E (p.Gly34Glu) variant details
- p.Gly34Glu
- gnomAD 15-92901339-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.142
- CADD 8.71
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available