S22S (p.Ser22Ser) variant of SMAD4 (SMAD family member 4)
S22S (p.Ser22Ser) in SMAD4 (SMAD family member 4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
S22S (p.Ser22Ser) variant details
- p.Ser22Ser
- gnomAD 18-51047112-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.237
- CADD 13.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available