R10S (p.Arg10Ser) variant of ASXL3 (Q9C0F0)
R10S (p.Arg10Ser) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
R10S (p.Arg10Ser) variant details
- p.Arg10Ser
- gnomAD 18-33578659-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.15
- ESM-1b 0.33
- AlphaMissense 1.00
- MetaLR 0.05
- MetaSVM -1.04
- CADD 23.30
- Population evidence available
- Structural context available
- Literature evidence available