S17S (p.Ser17Ser) variant of SETBP1 (SET-binding protein)
S17S (p.Ser17Ser) in SETBP1 (SET-binding protein) 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.
S17S (p.Ser17Ser) variant details
- p.Ser17Ser
- gnomAD 18-44701397-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.138
- CADD 8.03
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available