A84G (p.Ala84Gly) variant of CHD8 (Q9HCK8)
A84G (p.Ala84Gly) in CHD8 (Q9HCK8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data.
A84G (p.Ala84Gly) variant details
- p.Ala84Gly
- Ensembl rs773676465
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- CADD 17.80
- PolyPhen-2 0.00
- SIFT 0.33
- Most common in the Non-Finnish European population (allele frequency 5.6e-06)