H81H (p.His81His) variant of CHD7 (Q9P2D1)
H81H (p.His81His) in CHD7 (Q9P2D1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
H81H (p.His81His) variant details
- p.His81His
- gnomAD 8-60741675-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.359
- CADD 7.77
- Population evidence available
- Structural context available
- Literature evidence available