H23Q (p.His23Gln) variant of ASXL3 (Q9C0F0)
H23Q (p.His23Gln) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
H23Q (p.His23Gln) variant details
- p.His23Gln
- gnomAD rs1303101039
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.80
- MetaLR 0.03
- MetaSVM -1.03
- CADD 17.80
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available