A28G (p.Ala28Gly) variant of CHD2 (O14647)
A28G (p.Ala28Gly) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
A28G (p.Ala28Gly) variant details
- p.Ala28Gly
- rs908519850
- gnomAD 15-92901356-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- CADD 18.90
- Most common in the Non-Finnish European population (allele frequency 1.7e-06)
- Structural context available
- Literature evidence available