E10G (p.Glu10Gly) variant of CHD2 (O14647)
E10G (p.Glu10Gly) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
E10G (p.Glu10Gly) variant details
- p.Glu10Gly
- gnomAD 15-92904927-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- CADD 12.10
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 6.5e-06)
- Structural context available
- Literature evidence available