K46K (p.Lys46Lys) variant of SETBP1 (SET-binding protein)
K46K (p.Lys46Lys) in SETBP1 (SET-binding protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
K46K (p.Lys46Lys) variant details
- p.Lys46Lys
- rs1486865751
- gnomAD 18-44701484-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.253
- CADD 9.55
- Population evidence available
- Structural context available
- Literature evidence available