H71H (p.His71His) variant of CHD7 (Q9P2D1)
H71H (p.His71His) in CHD7 (Q9P2D1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
H71H (p.His71His) variant details
- p.His71His
- gnomAD 8-60741645-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.466
- CADD 8.40
- Population evidence available
- Structural context available
- Literature evidence available