D44E (p.Asp44Glu) variant of CHD7 (Q9P2D1)
D44E (p.Asp44Glu) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
D44E (p.Asp44Glu) variant details
- p.Asp44Glu
- gnomAD 8-60741564-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.09
- MetaLR 0.09
- MetaSVM -1.01
- CADD 19.00
- PolyPhen-2 0.05
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available