K4T (p.Lys4Thr) variant of ASXL3 (Q9C0F0)
K4T (p.Lys4Thr) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
K4T (p.Lys4Thr) variant details
- p.Lys4Thr
- gnomAD 18-33578642-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.91
- CADD 24.10
- PolyPhen-2 0.91
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available