E103Q (p.Glu103Gln) variant of CHD8 (Q9HCK8)
E103Q (p.Glu103Gln) in CHD8 (Q9HCK8) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data.
E103Q (p.Glu103Gln) variant details
- p.Glu103Gln
- TOPMed rs1348950904
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- AlphaMissense 0.08
- MetaLR 0.41
- MetaSVM -0.70
- CADD 16.90
- PolyPhen-2 0.01
- SIFT 0.33
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.3e-05)