A19S (p.Ala19Ser) variant of CHD2 (O14647)
A19S (p.Ala19Ser) in CHD2 (O14647) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
A19S (p.Ala19Ser) variant details
- p.Ala19Ser
- gnomAD 15-92904910-G-GA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.533
- CADD 18.60
- Most common in the Ashkenazi Jewish population (allele frequency 4e-05)
- Structural context available
- Literature evidence available