E14D (p.Glu14Asp) variant of ASXL3 (Q9C0F0)
E14D (p.Glu14Asp) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
E14D (p.Glu14Asp) variant details
- p.Glu14Asp
- gnomAD 18-33578673-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.12
- ESM-1b 0.04
- AlphaMissense 0.96
- MetaLR 0.12
- MetaSVM -1.03
- CADD 24.80
- Population evidence available
- Structural context available
- Literature evidence available