K124E (p.Lys124Glu) variant of CHD8 (Q9HCK8)
K124E (p.Lys124Glu) in CHD8 (Q9HCK8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data.
K124E (p.Lys124Glu) variant details
- p.Lys124Glu
- ExAC rs750909288
- TOPMed rs750909288
- gnomAD rs750909288
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- CADD 19.50
- PolyPhen-2 0.01
- SIFT 0.61
- Most common in the East Asian population (allele frequency 0.00013)