A15S (p.Ala15Ser) variant of ASXL3 (Q9C0F0)
A15S (p.Ala15Ser) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A15S (p.Ala15Ser) variant details
- p.Ala15Ser
- gnomAD 18-33578674-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.07
- ESM-1b 1.00
- AlphaMissense 0.87
- MetaLR 0.07
- MetaSVM -1.03
- CADD 23.30
- Population evidence available
- Structural context available
- Literature evidence available