E10E (p.Glu10Glu) variant of CHD2 (O14647)
E10E (p.Glu10Glu) in CHD2 (O14647) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
E10E (p.Glu10Glu) variant details
- p.Glu10Glu
- rs754725429
- gnomAD 15-92901267-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.556
- CADD 12.20
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available