A63E (p.Ala63Glu) variant of CHD8 (Q9HCK8)
A63E (p.Ala63Glu) 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.
A63E (p.Ala63Glu) variant details
- p.Ala63Glu
- gnomAD rs1227341792
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- CADD 18.60
- PolyPhen-2 0.01
- SIFT 0.41
- Most common in the South Asian population (allele frequency 1.3e-05)