D57A (p.Asp57Ala) variant of CHD8 (Q9HCK8)
D57A (p.Asp57Ala) in CHD8 (Q9HCK8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data.
D57A (p.Asp57Ala) variant details
- p.Asp57Ala
- gnomAD rs1178044952
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- CADD 20.60
- PolyPhen-2 0.55
- SIFT 0.19
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)