P27Q (p.Pro27Gln) variant of ASXL3 (Q9C0F0)
P27Q (p.Pro27Gln) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
P27Q (p.Pro27Gln) variant details
- p.Pro27Gln
- gnomAD 18-33607619-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.14
- ESM-1b 0.80
- AlphaMissense 0.97
- MetaLR 0.09
- MetaSVM -0.96
- CADD 23.10
- Population evidence available
- Structural context available
- Literature evidence available