S20* (p.Ser20Ter) variant of CHD2 (O14647)
S20* (p.Ser20Ter) in CHD2 (O14647) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
S20* (p.Ser20Ter) variant details
- p.Ser20Ter
- gnomAD 15-92901296-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.875
- CADD 39.00
- Population evidence available
- Structural context available
- Literature evidence available