I48I (p.Ile48Ile) variant of SETBP1 (SET-binding protein)
I48I (p.Ile48Ile) in SETBP1 (SET-binding protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
I48I (p.Ile48Ile) variant details
- p.Ile48Ile
- rs371516078
- gnomAD 18-44701490-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.245
- CADD 9.19
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available