E127K (p.Glu127Lys) variant of CHD8 (Q9HCK8)
E127K (p.Glu127Lys) in CHD8 (Q9HCK8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data.
E127K (p.Glu127Lys) variant details
- p.Glu127Lys
- TOPMed rs1218996132
- gnomAD rs1218996132
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- CADD 23.50
- PolyPhen-2 0.65
- SIFT 0.29
- Most common in the Non-Finnish European population (allele frequency 9e-07)