A25A (p.Ala25Ala) variant of SETBP1 (SET-binding protein)
A25A (p.Ala25Ala) in SETBP1 (SET-binding protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A25A (p.Ala25Ala) variant details
- p.Ala25Ala
- rs2069113448
- gnomAD 18-44701421-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.315
- CADD 9.08
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available