R5S (p.Arg5Ser) variant of ASXL3 (Q9C0F0)
R5S (p.Arg5Ser) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
R5S (p.Arg5Ser) variant details
- p.Arg5Ser
- gnomAD 18-33578646-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.99
- CADD 24.00
- PolyPhen-2 0.01
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available