E21K (p.Glu21Lys) variant of ASXL3 (Q9C0F0)
E21K (p.Glu21Lys) in ASXL3 (Q9C0F0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
E21K (p.Glu21Lys) variant details
- p.Glu21Lys
- rs1403183821
- ClinGen CA402269359
- ClinVar RCV001931004
- gnomAD rs1403183821
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.28
- ESM-1b 0.14
- AlphaMissense 0.99
- MetaLR 0.07
- MetaSVM -0.91
- CADD 24.40
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available