A34A (p.Ala34Ala) variant of SETBP1 (SET-binding protein)
A34A (p.Ala34Ala) in SETBP1 (SET-binding protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
A34A (p.Ala34Ala) variant details
- p.Ala34Ala
- rs572249525
- gnomAD 18-44701448-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.459
- CADD 13.40
- Most common in the 1KG:KHV population (allele frequency 0.005)
- Structural context available
- Literature evidence available