L39F (p.Leu39Phe) variant of SETBP1 (SET-binding protein)
L39F (p.Leu39Phe) in SETBP1 (SET-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
L39F (p.Leu39Phe) variant details
- p.Leu39Phe
- TOPMed rs2069114602
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- CADD 22.50
- PolyPhen-2 0.32
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available