E14K (p.Glu14Lys) variant of ASXL3 (Q9C0F0)
E14K (p.Glu14Lys) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
E14K (p.Glu14Lys) variant details
- p.Glu14Lys
- gnomAD rs1343564632
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.17
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.14
- MetaSVM -0.93
- CADD 27.70
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.5e-05)
- Structural context available