P27R (p.Pro27Arg) variant of ASXL3 (Q9C0F0)
P27R (p.Pro27Arg) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
P27R (p.Pro27Arg) variant details
- p.Pro27Arg
- gnomAD 18-33607619-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.19
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.09
- MetaSVM -0.83
- CADD 23.20
- Population evidence available
- Structural context available
- Literature evidence available