A19E (p.Ala19Glu) variant of ASXL3 (Q9C0F0)
A19E (p.Ala19Glu) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
A19E (p.Ala19Glu) variant details
- p.Ala19Glu
- gnomAD 18-33607595-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.30
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.09
- MetaSVM -1.09
- CADD 28.40
- Population evidence available
- Structural context available
- Literature evidence available