A19S (p.Ala19Ser) variant of ASXL3 (Q9C0F0)
A19S (p.Ala19Ser) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
A19S (p.Ala19Ser) variant details
- p.Ala19Ser
- gnomAD 18-33607594-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.17
- ESM-1b 0.41
- AlphaMissense 0.68
- MetaLR 0.08
- MetaSVM -1.15
- CADD 33.00
- Population evidence available
- Structural context available
- Literature evidence available