E103K (p.Glu103Lys) variant of CHD8 (Q9HCK8)
E103K (p.Glu103Lys) in CHD8 (Q9HCK8) 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 0.58 / 1. The record also includes population frequency data.
E103K (p.Glu103Lys) variant details
- p.Glu103Lys
- rs1348950904
- ClinGen CA388889582
- ClinVar RCV002750647
- TOPMed rs1348950904
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- AlphaMissense 0.08
- MetaLR 0.41
- MetaSVM -0.70
- CADD 17.70
- PolyPhen-2 0.01
- SIFT 0.33
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 8.3e-05)