T11I (p.Thr11Ile) variant of ASXL3 (Q9C0F0)
T11I (p.Thr11Ile) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
T11I (p.Thr11Ile) variant details
- p.Thr11Ile
- gnomAD 18-33578663-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.15
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.06
- MetaSVM -1.08
- CADD 22.90
- Population evidence available
- Structural context available
- Literature evidence available