S9R (p.Ser9Arg) variant of SETBP1 (SET-binding protein)
S9R (p.Ser9Arg) in SETBP1 (SET-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and published literature.
S9R (p.Ser9Arg) variant details
- p.Ser9Arg
- gnomAD 18-44701373-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- CADD 22.40
- PolyPhen-2 0.21
- SIFT 0.01
- Population evidence available
- Literature evidence available