P27A (p.Pro27Ala) variant of ASXL3 (Q9C0F0)
P27A (p.Pro27Ala) 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.
P27A (p.Pro27Ala) variant details
- p.Pro27Ala
- gnomAD 18-33607618-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.19
- ESM-1b 1.00
- AlphaMissense 0.69
- MetaLR 0.08
- MetaSVM -0.99
- CADD 22.40
- Population evidence available
- Structural context available
- Literature evidence available