A30P (p.Ala30Pro) variant of ASXL3 (Q9C0F0)
A30P (p.Ala30Pro) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A30P (p.Ala30Pro) variant details
- p.Ala30Pro
- gnomAD 18-33607627-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.62
- MetaLR 0.03
- MetaSVM -0.97
- CADD 23.50
- Population evidence available
- Structural context available
- Literature evidence available