D84H (p.Asp84His) variant of CHD7 (Q9P2D1)
D84H (p.Asp84His) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
D84H (p.Asp84His) variant details
- p.Asp84His
- gnomAD 8-60741682-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.21
- MetaLR 0.22
- MetaSVM -0.70
- CADD 26.40
- PolyPhen-2 0.87
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available