A13D (p.Ala13Asp) variant of ASXL3 (Q9C0F0)
A13D (p.Ala13Asp) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A13D (p.Ala13Asp) variant details
- p.Ala13Asp
- gnomAD 18-33578669-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.18
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.07
- MetaSVM -1.05
- CADD 23.40
- Population evidence available
- Structural context available
- Literature evidence available