D3E (p.Asp3Glu) variant of CHD7 (Q9P2D1)
D3E (p.Asp3Glu) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D3E (p.Asp3Glu) variant details
- p.Asp3Glu
- gnomAD 8-60741441-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.36
- MetaLR 0.32
- MetaSVM -0.46
- CADD 22.20
- PolyPhen-2 0.33
- SIFT 0.00
- Population evidence available
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.53
- Literature evidence available