S20S (p.Ser20Ser) variant of CHD2 (O14647)
S20S (p.Ser20Ser) in CHD2 (O14647) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
S20S (p.Ser20Ser) variant details
- p.Ser20Ser
- gnomAD 15-92901297-G-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.606
- CADD 18.20
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available
- Literature evidence available