A15P (p.Ala15Pro) variant of ASXL3 (Q9C0F0)
A15P (p.Ala15Pro) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A15P (p.Ala15Pro) variant details
- p.Ala15Pro
- gnomAD 18-33578674-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.18
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.06
- MetaSVM -1.03
- CADD 23.90
- Population evidence available
- Structural context available
- Literature evidence available