T11A (p.Thr11Ala) variant of ASXL3 (Q9C0F0)
T11A (p.Thr11Ala) 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.
T11A (p.Thr11Ala) variant details
- p.Thr11Ala
- gnomAD 18-33578662-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.13
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.07
- MetaSVM -1.02
- CADD 21.80
- Population evidence available
- Structural context available
- Literature evidence available