E103* (p.Glu103Ter) variant of CHD8 (Q9HCK8)
E103* (p.Glu103Ter) in CHD8 (Q9HCK8) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1.
E103* (p.Glu103Ter) variant details
- p.Glu103Ter
- rs1348950904
- TOPMed rs1348950904
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.443
- AlphaMissense 0.08
- MetaLR 0.41
- MetaSVM -0.70
- SIFT 0.33
- MutPred 0.17
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance