S25I (p.Ser25Ile) variant of CHD2 (O14647)
S25I (p.Ser25Ile) in CHD2 (O14647) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
S25I (p.Ser25Ile) variant details
- p.Ser25Ile
- gnomAD 15-92901307-C-CT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.708
- CADD 18.60
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available