E38G (p.Glu38Gly) variant of CHD2 (O14647)
E38G (p.Glu38Gly) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
E38G (p.Glu38Gly) variant details
- p.Glu38Gly
- rs1228024255
- gnomAD 15-92901347-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- CADD 16.30
- Most common in the East Asian population (allele frequency 8.5e-05)
- Structural context available
- Literature evidence available