E14Q (p.Glu14Gln) variant of ASXL3 (Q9C0F0)
E14Q (p.Glu14Gln) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
E14Q (p.Glu14Gln) variant details
- p.Glu14Gln
- gnomAD 18-33578671-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.16
- ESM-1b 0.07
- AlphaMissense 0.97
- MetaLR 0.16
- MetaSVM -0.97
- CADD 26.50
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available
- Literature evidence available