L39L (p.Leu39Leu) variant of SETBP1 (SET-binding protein)
L39L (p.Leu39Leu) 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.
L39L (p.Leu39Leu) variant details
- p.Leu39Leu
- rs2144196326
- gnomAD 18-44701463-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.131
- CADD 7.06
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available