A19T (p.Ala19Thr) variant of ASXL3 (Q9C0F0)
A19T (p.Ala19Thr) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
A19T (p.Ala19Thr) variant details
- p.Ala19Thr
- gnomAD 18-33607594-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.97
- MetaLR 0.08
- MetaSVM -1.13
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available