A16D (p.Ala16Asp) variant of ASXL3 (Q9C0F0)
A16D (p.Ala16Asp) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
A16D (p.Ala16Asp) variant details
- p.Ala16Asp
- gnomAD 18-33578678-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.24
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.14
- MetaSVM -0.89
- CADD 25.50
- Population evidence available
- Structural context available
- Literature evidence available