E77K (p.Glu77Lys) variant of CHD8 (Q9HCK8)
E77K (p.Glu77Lys) in CHD8 (Q9HCK8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data.
E77K (p.Glu77Lys) variant details
- p.Glu77Lys
- TOPMed rs1433317452
- gnomAD rs1433317452
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- CADD 19.10
- PolyPhen-2 0.01
- SIFT 0.50
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)