T11S (p.Thr11Ser) variant of ASXL3 (Q9C0F0)
T11S (p.Thr11Ser) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
T11S (p.Thr11Ser) variant details
- p.Thr11Ser
- gnomAD 18-33578663-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.92
- MetaLR 0.07
- MetaSVM -1.01
- CADD 22.50
- Population evidence available
- Structural context available
- Literature evidence available