S9I (p.Ser9Ile) variant of SETBP1 (SET-binding protein)
S9I (p.Ser9Ile) in SETBP1 (SET-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and published literature.
S9I (p.Ser9Ile) variant details
- p.Ser9Ile
- gnomAD 18-44701372-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- CADD 22.50
- PolyPhen-2 0.03
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Literature evidence available