E14G (p.Glu14Gly) variant of ASXL3 (Q9C0F0)
E14G (p.Glu14Gly) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
E14G (p.Glu14Gly) variant details
- p.Glu14Gly
- gnomAD 18-33578672-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.17
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.14
- MetaSVM -0.98
- CADD 32.00
- Most common in the South Asian population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available