K65E (p.Lys65Glu) variant of CHD7 (Q9P2D1)
K65E (p.Lys65Glu) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
K65E (p.Lys65Glu) variant details
- p.Lys65Glu
- gnomAD 8-60741625-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.19
- MetaLR 0.34
- MetaSVM -0.33
- CADD 25.90
- PolyPhen-2 0.90
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available