K7E (p.Lys7Glu) variant of ASXL3 (Q9C0F0)
K7E (p.Lys7Glu) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
K7E (p.Lys7Glu) variant details
- p.Lys7Glu
- gnomAD 18-33578650-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.98
- MetaLR 0.08
- MetaSVM -1.08
- CADD 26.80
- Population evidence available
- Structural context available
- Literature evidence available