P27S (p.Pro27Ser) variant of ASXL3 (Q9C0F0)
P27S (p.Pro27Ser) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
P27S (p.Pro27Ser) variant details
- p.Pro27Ser
- gnomAD 18-33607618-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.17
- ESM-1b 1.00
- AlphaMissense 0.94
- MetaLR 0.09
- MetaSVM -0.97
- CADD 22.80
- Population evidence available
- Structural context available
- Literature evidence available