S3S (p.Ser3Ser) variant of SETBP1 (SET-binding protein)
S3S (p.Ser3Ser) in SETBP1 (SET-binding protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
S3S (p.Ser3Ser) variant details
- p.Ser3Ser
- rs867812026
- gnomAD 18-44701355-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.565
- CADD 12.80
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available