E22G (p.Glu22Gly) variant of ASXL1 (Polycomb group protein ASXL1)
E22G (p.Glu22Gly) in ASXL1 (Polycomb group protein ASXL1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
E22G (p.Glu22Gly) variant details
- p.Glu22Gly
- ExAC rs775831641
- gnomAD rs775831641
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.53
- MetaLR 0.27
- MetaSVM -0.51
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available