S29S (p.Ser29Ser) variant of CHD2 (O14647)
S29S (p.Ser29Ser) in CHD2 (O14647) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
S29S (p.Ser29Ser) variant details
- p.Ser29Ser
- rs781564863
- gnomAD 15-92902198-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.327
- CADD 20.30
- Most common in the East Asian population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available