E40E (p.Glu40Glu) variant of CHD2 (O14647)
E40E (p.Glu40Glu) in CHD2 (O14647) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
E40E (p.Glu40Glu) variant details
- p.Glu40Glu
- gnomAD 15-92924378-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.267
- CADD 10.40
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available