S25* (p.Ser25Ter) variant of CHD2 (O14647)
S25* (p.Ser25Ter) in CHD2 (O14647) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
S25* (p.Ser25Ter) variant details
- p.Ser25Ter
- gnomAD 15-92901311-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.413
- CADD 17.60
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available