E11del (p.Glu11del) variant of CHD2 (O14647)
E11del (p.Glu11del) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
E11del (p.Glu11del) variant details
- rs772244385
- gnomAD 15-92901264-AGAG-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.451
- CADD 21.70
- Population evidence available
- Structural context available
- Literature evidence available