S29P (p.Ser29Pro) variant of CHD2 (O14647)
S29P (p.Ser29Pro) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
S29P (p.Ser29Pro) variant details
- p.Ser29Pro
- gnomAD 15-92902196-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- CADD 19.40
- Most common in the East Asian population (allele frequency 4.4e-05)
- Structural context available
- Literature evidence available