S47S (p.Ser47Ser) variant of CHD2 (O14647)
S47S (p.Ser47Ser) in CHD2 (O14647) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
S47S (p.Ser47Ser) variant details
- p.Ser47Ser
- rs745812477
- gnomAD 15-92924399-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.139
- CADD 8.26
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available