H16H (p.His16His) variant of CHD2 (O14647)
H16H (p.His16His) in CHD2 (O14647) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
H16H (p.His16His) variant details
- p.His16His
- gnomAD 15-92901285-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.66
- CADD 12.90
- Population evidence available
- Structural context available
- Literature evidence available