H23Y (p.His23Tyr) variant of ASXL3 (Q9C0F0)
H23Y (p.His23Tyr) in ASXL3 (Q9C0F0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
H23Y (p.His23Tyr) variant details
- p.His23Tyr
- rs555478574
- ClinGen CA8933458
- ClinVar RCV004526479
- 1000Genomes rs555478574
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.01
- MetaSVM -1.00
- CADD 17.80
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.005)
- Structural context available