H23N (p.His23Asn) variant of ASXL3 (Q9C0F0)
H23N (p.His23Asn) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
H23N (p.His23Asn) variant details
- p.His23Asn
- gnomAD 18-33607606-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.49
- MetaLR 0.03
- MetaSVM -1.07
- CADD 22.70
- Population evidence available
- Structural context available
- Literature evidence available