E14V (p.Glu14Val) variant of ASXL3 (Q9C0F0)
E14V (p.Glu14Val) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
E14V (p.Glu14Val) variant details
- p.Glu14Val
- gnomAD 18-33578672-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.21
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.15
- MetaSVM -0.91
- CADD 27.40
- Population evidence available
- Structural context available
- Literature evidence available