G45R (p.Gly45Arg) variant of SETBP1 (SET-binding protein)
G45R (p.Gly45Arg) in SETBP1 (SET-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
G45R (p.Gly45Arg) variant details
- p.Gly45Arg
- gnomAD rs1258751538
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- CADD 23.80
- PolyPhen-2 0.68
- SIFT 0.06
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available