S40S (p.Ser40Ser) variant of SETBP1 (SET-binding protein)
S40S (p.Ser40Ser) in SETBP1 (SET-binding protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
S40S (p.Ser40Ser) variant details
- p.Ser40Ser
- gnomAD 18-44701466-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.126
- CADD 6.46
- Population evidence available
- Structural context available
- Literature evidence available