H16I (p.His16Ile) variant of CHD2 (O14647)
H16I (p.His16Ile) in CHD2 (O14647) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
H16I (p.His16Ile) variant details
- p.His16Ile
- gnomAD 15-92904912-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.451
- CADD 13.90
- Most common in the Ashkenazi Jewish population (allele frequency 4e-05)
- Structural context available
- Literature evidence available