D6E (p.Asp6Glu) variant of CHD2 (O14647)
D6E (p.Asp6Glu) in CHD2 (O14647) is a missense 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.
D6E (p.Asp6Glu) variant details
- p.Asp6Glu
- gnomAD 15-92901255-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.30
- MetaLR 0.45
- MetaSVM -0.36
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available