S37* (p.Ser37Ter) variant of CHD2 (O14647)
S37* (p.Ser37Ter) in CHD2 (O14647) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
S37* (p.Ser37Ter) variant details
- p.Ser37Ter
- gnomAD 15-92924368-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.868
- CADD 38.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available