A19A (p.Ala19Ala) variant of CHD2 (O14647)
A19A (p.Ala19Ala) in CHD2 (O14647) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A19A (p.Ala19Ala) variant details
- p.Ala19Ala
- rs1412598141
- gnomAD 15-92901294-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.313
- CADD 14.70
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available