A28A (p.Ala28Ala) variant of CHD2 (O14647)
A28A (p.Ala28Ala) in CHD2 (O14647) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
A28A (p.Ala28Ala) variant details
- p.Ala28Ala
- rs1158234856
- gnomAD 15-92904988-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.159
- CADD 11.10
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available