E26D (p.Glu26Asp) variant of CHD2 (O14647)
E26D (p.Glu26Asp) in CHD2 (O14647) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
E26D (p.Glu26Asp) variant details
- p.Glu26Asp
- rs780490876
- gnomAD 15-92901305-AGC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.548
- CADD 15.60
- Most common in the Non-Finnish European population (allele frequency 6.4e-06)
- Structural context available
- Literature evidence available