R5T (p.Arg5Thr) variant of ASXL3 (Q9C0F0)
R5T (p.Arg5Thr) 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.
R5T (p.Arg5Thr) variant details
- p.Arg5Thr
- gnomAD 18-33578645-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.98
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available